Aase-Smith syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or “frozen” joints (contractures). Other symptoms might include: thin fingers with absent knuckles and reduced creases over the joints, ear abnormalities, heart defects, and clubfoot. The cause of Aase-Smith syndrome is not known, but it is likely genetic due to reports of affected family members and likely autosomal dominant inheritance.
Aase-Smith syndrome is a very rare condition that affects babies from birth. Doctors use the name for two related but different patterns.
Type I means a baby has a brain fluid problem called hydrocephalus. This often comes from a brain formation problem called Dandy-Walker malformation. The baby may also have a cleft palate and stiff joints (contractures). Fingers can look thin with fewer skin lines and less knuckle shape. Some babies also have ear shape problems, heart problems, or clubfoot. The exact gene cause of Type I is not known. Doctors believe it is genetic because it can run in families. NCBIGenetic Diseases Info Center
Type II is the pattern that Aase and Smith first described. A baby has congenital hypoplastic anemia (the bone marrow does not make enough red blood cells) and triphalangeal thumbs (the thumbs have three small bones instead of two). Many experts now group this pattern inside the Diamond-Blackfan anemia (DBA) spectrum. In many people with this pattern, changes in ribosomal protein genes cause the anemia. Journal of PediatricsAAP PublicationsNCBIPMC
In simple words:
Type I = brain fluid problem + cleft palate + stiff joints.
Type II = low red blood cells from birth + thumbs with three bones.
Other names
Doctors and books use several names. These are the main ones you may see:
Aase-Smith syndrome (general umbrella name) NCBI
Aase syndrome (often used for the Type II pattern) MedlinePlus
Hypoplastic anemia–triphalangeal thumbs syndrome (Type II) Radiopaedia
Congenital anemia and triphalangeal thumbs (Type II) Radiopaedia
Aase-Smith syndrome Type I (hydrocephalus/Dandy-Walker + cleft palate + joint contractures) monarchinitiative.org
Aase-Smith syndrome Type II (often considered within Diamond-Blackfan anemia) and sometimes even called “Aase syndrome” or “DBA syndrome variant” in modern sources. NCBI
Types
Doctors have used the name Aase-Smith for two extremely rare genetic conditions:
Aase-Smith syndrome type I (also called Aase-Smith I or hydrocephalus–cleft palate–joint contractures syndrome). Babies are born with a brain fluid buildup (hydrocephalus) often linked to Dandy-Walker malformation, a cleft palate, and very stiff joints (contractures). Other findings may include thin fingers, abnormal ears, heart defects, and clubfoot. There is no single proven cause yet; inheritance can be autosomal dominant in some families. Care is supportive and often surgical (for hydrocephalus and cleft palate). Genetic Diseases Info CenterNCBI+1Orpha
Aase-Smith syndrome type II is the historic name for Diamond-Blackfan anemia (DBA) or Aase syndrome. In this disorder, the bone marrow under-produces red blood cells (congenital erythroid failure), sometimes along with limb/thumb and craniofacial differences. Most cases involve mutations in ribosomal-protein genes. Standard treatments are corticosteroids, regular red cell transfusions with iron-chelation, and (when needed) hematopoietic stem-cell transplant (HSCT). NCBIMount Sinai Health SystemPubMed
Both patterns are present at birth and are very rare. Some families show autosomal dominant inheritance, but many cases are new in the child. Genetic Diseases Info CenterMedlinePlus
Causes
Because there are two patterns, I list causes for both. For Type I, the cause is not fully known but is likely genetic. For Type II, we know many gene causes from the DBA field.
Type I (developmental anomaly pattern):
Genetic cause not yet identified – Families with more than one affected child suggest a gene cause, but no single gene explains all cases yet. NCBI
Abnormal brain development (Dandy-Walker) – The back part of the brain (cerebellum and its cystic space) forms in an unusual way in early pregnancy. NCBI
Cleft palate formation error – The roof of the mouth does not join in the middle during early fetal life. Genetic Diseases Info Center
Fetal joint movement reduction – Babies with contractures often had limited movement before birth; joints then become stiff. (Mechanism is general for arthrogryposis.)
Possible autosomal dominant inheritance – Some reports show the pattern in generations, which suggests dominant inheritance in some families. Genetic Diseases Info Center
Sporadic (de novo) mutation – Many children are the first in the family, which points to a new change in the child’s genes (the specific gene is unknown). Genetic Diseases Info Center
Type II (marrow failure/DBA-spectrum pattern):
RPS19 gene variants – The most common DBA gene; changes lower red cell production. MedlinePlus
RPL5 gene variants – A ribosomal large-subunit gene; linked to DBA features (often with craniofacial/thumb changes). MedlinePlusOrpha
RPL11 gene variants – Another large-subunit gene; causes DBA features. MedlinePlus
RPL35A gene variants – Reported in a subset of DBA patients. MedlinePlus
RPS10 gene variants – Small-subunit ribosomal protein gene linked to DBA. MedlinePlus
RPS17 gene variants – Small-subunit gene linked to DBA. MedlinePlus
RPS24 gene variants – Small-subunit gene reported in DBA. ScienceDirect
RPS26 gene variants – Small-subunit gene reported in DBA. MedlinePlus
Other ribosomal protein genes – Many more ribosomal protein genes are known today; most DBA cases are due to changes in one of ~20 RP genes. Haematologica
Large gene deletions – Some people have missing stretches of DNA in these ribosomal protein genes (for example, deletions including RPS19 or RPL5). preventiongenetics.com
Haploinsufficiency mechanism – Having only one working copy of a ribosomal protein gene is not enough; this triggers p53-related stress and blocks red cell formation. PMC
Autosomal dominant inheritance – Many families show a dominant pattern in DBA-spectrum disorders. PMC
De novo (new) mutations – A change may occur for the first time in the child, with no family history. PMC
Chromosome 19 region changes – Some DBA cases have a missing piece on chromosome 19 (where RPS19 sits). This supports the gene link. Mount Sinai Health System
Symptoms
Symptoms vary a lot. Two babies in the same family can be different. These are common features across the two patterns:
Pale skin and tiredness (Type II) – From anemia due to poor red blood cell production. Babies may be sleepy, feed poorly, or breathe fast. Diamond Blackfan Anemia Foundation
Triphalangeal thumbs (Type II) – Thumbs look more like a finger with three bones. This is a key clue for the anemia pattern. RxList
Hydrocephalus (Type I) – Head may grow fast; soft spot may bulge; the baby may be irritable or vomit. Caused by Dandy-Walker malformation. NCBI
Cleft palate (Type I) – Opening in the roof of the mouth; feeding and speech can be affected. Genetic Diseases Info Center
Joint contractures (Type I) – Fingers and other joints are stiff from birth; the child cannot fully bend or straighten them. Genetic Diseases Info Center
Thin fingers with reduced knuckle creases (Type I) – Hands may look slender with fewer skin folds. Genetic Diseases Info Center
Ear shape differences (Type I) – Ears may look unusual in shape or position. Genetic Diseases Info Center
Heart defects – Some babies have structural heart problems or murmurs. Genetic Diseases Info Center
Clubfoot – One or both feet turn inward and downward. Genetic Diseases Info Center
Short stature – Many children with DBA-spectrum have short height for age. Multiple factors can contribute. Diamond Blackfan Anemia Foundation
Macrocytosis on labs (Type II) – Red cells are larger than normal, a common lab clue in DBA. PMC
High fetal hemoglobin on labs (Type II) – HbF can stay higher than normal in infancy and beyond in DBA. NCBI
High red-cell adenosine deaminase activity (Type II) – eADA is high in most DBA patients and helps doctors suspect the diagnosis. PMC
Feeding problems in infancy – From anemia, cleft palate, or poor stamina. Diamond Blackfan Anemia Foundation
Mild facial differences – Some children have subtle facial changes or eye differences along with thumb or palate findings. Diamond Blackfan Anemia Foundation
Diagnostic tests
Doctors choose tests based on the baby’s signs. We group them into five sets: Physical exam, Manual tests, Lab/Pathology, Electrodiagnostic, and Imaging. Your child will not need every test. The care team selects the right set for your child.
A) Physical exam
Full newborn and infant exam
The doctor looks at the baby’s general health, weight, length, and head size. They look for pale skin, feeding effort, and breathing pattern. This finds warning signs of anemia or hydrocephalus.Hand and thumb exam
The doctor checks each thumb for three bone segments and overall hand function. Triphalangeal thumbs strongly suggest the Type II pattern with anemia. RxListCraniofacial and palate exam
The mouth is checked for a cleft palate and for feeding issues. The face and ears are checked for shape differences seen in Type I. Genetic Diseases Info CenterJoint range-of-motion exam
The doctor gently moves each joint to see if contractures are present. They note which joints are stiff and how much they move. This is key in Type I. Genetic Diseases Info CenterCardiac exam
Listening for murmurs and checking pulses helps find heart defects that may come with Type I. An abnormal exam leads to an echocardiogram. Genetic Diseases Info Center
B) Manual tests
These are simple bedside measurements and hands-on checks.
Head circumference tracking
The baby’s head size is measured at each visit. A fast rise can signal hydrocephalus in Type I. (Imaging confirms it.) NCBIFeeding and latch assessment
Nurses or speech-feeding therapists watch a feed. Cleft palate and anemia can cause poor feeding and low stamina. Early help prevents weight loss. Genetic Diseases Info CenterDevelopmental screening
Simple milestone checks (smile, head control, hands to mouth) help spot delays related to anemia or hydrocephalus. Imaging and labs direct next steps. MedlinePlusOrthopedic bedside checks
The team assesses passive joint movement and foot position (for clubfoot). Early detection supports braces, casting, or therapy if needed. Genetic Diseases Info CenterAirway and speech-resonance check
A gentle look and listen for nasal speech, regurgitation, or choking can suggest cleft palate effects and guides referral to cleft team. Genetic Diseases Info Center
C) Lab and pathological tests
Complete blood count (CBC)
This shows anemia, usually with low hemoglobin and often large red cells (macrocytosis) in the Type II/DBA spectrum. It also checks white cells and platelets. MedlinePlusPMCReticulocyte count
This measures young red cells. In Type II/DBA, the reticulocyte count is often low because the marrow is not making enough new red cells. ASHPublicationsFetal hemoglobin (HbF) level
Many infants with DBA-spectrum have higher HbF than usual for age. This helps support the diagnosis, especially with other findings. NCBIErythrocyte adenosine deaminase (eADA)
This enzyme level is high in most people with DBA-spectrum disease and is a helpful lab clue (high sensitivity and specificity in studies). PMCJohns Hopkins UniversityErythropoietin level
The hormone that stimulates red cells is often elevated in DBA because the body is trying to correct the anemia. (Helpful but not specific.) BloodGeneticsIron studies (ferritin, iron, TIBC)
These rule out iron deficiency and help manage transfusion-related iron load if transfusions are needed later. (Part of standard anemia workup.)Bone marrow aspirate/biopsy
This shows red-cell precursors are reduced in the Type II/DBA pattern, while other cell lines may be normal. It helps confirm hypoplastic anemia. Seattle Children’s HospitalGenetic testing panel
Panels look for changes in many ribosomal protein genes (RPS19, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS24, RPS26, and others). A positive result confirms the DBA-spectrum in Type II. Deletion testing can find missing gene pieces. MedlinePluspreventiongenetics.com
D) Electrodiagnostic tests
These tests are used only when needed for associated features.
Electrocardiogram (ECG)
If a heart defect is suspected or a murmur is present, an ECG records heart rhythm and helps plan care along with imaging.Auditory brainstem response (ABR) hearing test
Some babies with craniofacial differences or ear shape changes may need hearing checks. ABR is a gentle electrical test done during sleep.Electroencephalogram (EEG)
If a child with hydrocephalus has spells concerning for seizures, an EEG can look at brain electrical activity.
E) Imaging tests
Cranial ultrasound
Through the soft spot, an ultrasound can quickly screen for enlarged fluid spaces in the brain in young infants. It is safe and painless. (MRI confirms details.)Brain MRI
This shows Dandy-Walker malformation and the degree of hydrocephalus. It helps the team decide if and when surgery is needed in Type I. NCBIEchocardiogram
An ultrasound of the heart looks for structural defects that can come with Type I. It also helps if there is a heart murmur. Genetic Diseases Info CenterSkeletal radiographs
Hand X-rays confirm triphalangeal thumbs in Type II. Spine, hips, and feet films help plan care for joint or foot issues. Radiopaedia
Non-pharmacological treatments
(organized as 15 physiotherapy, 5 gene-therapy concepts in plain language, and 5 educational/behavioral therapies)
A) Physiotherapy & rehab strategies
Gentle daily range-of-motion stretching for affected joints (hips, knees, feet, elbows, fingers) to reduce stiffness and maintain length. Benefits: better comfort, easier dressing and positioning, and a foundation for sitting/standing skills. Evidence from arthrogryposis care supports early, consistent stretching. MedscapePMC
Serial splinting and bracing (e.g., thermoplastic splints, foot abduction braces) to hold posture after stretching and guide growth. Purpose: prevent recurrence of deformity; Mechanism: low-load, prolonged stretch. Benefit: improved alignment for future standing/walking. Physiopedia
Positioning programs (prone play, supported sitting, standing frames) to build trunk control and reduce hip/knee flexion contractures. Benefit: better motor milestones and pulmonary comfort in infants with hypotonia or large heads from hydrocephalus. ERN ITHACA
Task-specific motor practice (rolling, crawling, sit-to-stand) with graded assistance. Purpose: functional independence; Mechanism: neuroplasticity by repetition; Benefit: faster skill acquisition despite congenital stiffness. PMC
Strengthening of residual muscle groups using play-based resistance (thera-bands, gravity) to improve transfers and gait. Benefit: energy savings during daily tasks. PMC
Gait training with walkers or canes when feet/ankles are involved. Benefit: safety and endurance; Mechanism: controlled weight-bearing improves bone density. jposna.com
Constraint-induced/forced-use techniques for one limb that is less functional (short sessions). Purpose: reduce learned non-use; Benefit: improved bimanual function.
Hand therapy (thumb opposition practice, adaptive grips) to compensate for triphalangeal thumbs or abnormal thumbs (seen in DBA/Aase syndrome). Benefit: self-care independence (feeding, writing). accesspediatrics.mhmedical.com
Post-surgical rehab after clubfoot release, tendon releases, or cleft palate repair: protect the repair, then gradually restore motion, chewing/swallowing, and speech resonance. Benefit: better long-term outcomes. Children’s National Hospital
Feeding and oral-motor therapy for cleft palate: specialized nipples, positioning, and pacing to ensure safe feeding and weight gain pre- and post-repair. Benefit: reduces aspiration and growth failure. Children’s National Hospital
Speech-language therapy for velopharyngeal issues after cleft repair and for any developmental delay. Benefit: clearer speech and improved social participation. Children’s National Hospital
Occupational therapy for ADLs (dressing strategies, adaptive tools, home setup). Mechanism: activity analysis + environmental adaptation; Benefit: independence.
Hydrotherapy (aquatic therapy) to move stiff joints with less gravity load; warm water reduces tone and pain.
Pain management techniques without drugs (heat, gentle massage, pacing, relaxation/breathing) to improve tolerance to therapy.
Caregiver home-program training (written plans, short videos) to maintain gains between clinic visits—critical in congenital contracture care. BioMed Central
B) Gene-therapy/regenerative concepts
These are research/early-stage approaches for DBA biology; they are not standard care yet.
Lentiviral addition of a healthy ribosomal-protein gene (e.g., RPS19) to the patient’s blood stem cells (ex vivo) then reinfusion. Purpose: permanently restore red cell production; Mechanism: gene addition to hematopoietic stem/progenitor cells; Benefit (potential): transfusion independence without donor HSCT. NatureScienceDirect
CRISPR/Cas9 gene correction of the patient’s mutation in HSPCs. Purpose: fix the broken copy; Mechanism: precise editing; Benefit: physiologic gene control, donor-free “autologous transplant.” (Preclinical/early translational.) HaematologicaScienceDirect
GATA1-targeted regulation to improve erythropoiesis downstream of ribosome defects (editing or expression-tuning strategies). Goal: bypass the block in red cell formation. (Concept stage.) ScienceDirect
Small-molecule “ribosome rescue” therapies (being explored) to stabilize ribosome biogenesis and reduce p53-mediated apoptosis in erythroid precursors. Purpose: increase marrow output. (Research field under active review.) PMC
Improved HSCT platforms (reduced-toxicity conditioning, fertility-preserving regimens) are not “gene therapy” but are regenerative and curative for blood formation; modern protocols aim to lower long-term side effects. HaematologicaASHPublications
C) Educational & supportive therapies
Genetic counseling for families (inheritance, recurrence risk, prenatal testing options). Benefit: informed planning. NCBI
Individualized education plans (IEP) for developmental or speech-language needs after hydrocephalus/cleft palate. Children’s National Hospital
Care coordination (hematology, neurosurgery, orthopedics, ENT, rehab) to align timing of surgeries, steroids, and therapies.
Transfusion/chelation education (goals, iron-overload monitoring, adherence, fertility counseling). PubMed
Infection-prevention teaching (vaccines on time; prompt fever care, especially if immunosuppressed on steroids or post-transplant).
Drug treatments
Doses below are typical pediatric/teen ranges; exact dosing is individualized by specialists.
Prednisone/prednisolone (corticosteroid) — Class: glucocorticoid. Dose: a short “steroid trial” often begins around 2 mg/kg/day, then taper to the lowest dose that keeps hemoglobin ≥9 g/dL; long-term high doses are avoided. Time: daily, reassessed frequently. Purpose: stimulate red cell production in DBA responders. Mechanism: not fully defined; likely reduces p53 stress and supports erythropoiesis. Side effects: growth delay, bone loss, cataracts, diabetes, infection risk, hypertension. Diamond Blackfan Anemia FoundationPMC
Red blood cell transfusions (therapy, not a drug, but essential) — given every 3–5 weeks if steroid-refractory. Benefit: reliable hemoglobin control; Risk: iron overload → needs chelation. PubMed
Deferasirox — Class: oral iron chelator. Dose: commonly 10–30 mg/kg/day. Purpose: remove excess iron from transfusions. Mechanism: binds iron; excreted in stool. Side effects: GI upset, kidney/liver enzyme changes; regular labs required. Nature
Deferiprone — Class: oral chelator. Dose: ~75–100 mg/kg/day in divided doses. Mechanism/benefit: mobilizes ferric iron; Risks: agranulocytosis (needs weekly neutrophil monitoring). NCBI
Deferoxamine — Class: parenteral chelator (subcutaneous/IV). Dose: typically 20–40 mg/kg over 8–12 hours, 5–7 nights/week. Use: when oral chelators are not tolerated; Side effects: local reactions, visual/auditory toxicity with high doses; regular screening needed. Nature
Peri-transplant conditioning/adjuncts (when HSCT is pursued) — examples include busulfan, fludarabine, cyclophosphamide, with careful fertility and organ-toxicity planning; regimens are tailored to reduce late effects while ensuring engraftment. Note: HSCT is the only established hematologic cure for DBA. PubMedHaematologica
Acetazolamide (selected infants with hydrocephalus, short-term) — Class: carbonic anhydrase inhibitor. Dose: historic neonatal studies used up to ~100 mg/kg/day; modern practice uses cautious, short courses when neurosurgery is pending. Purpose: transiently reduce CSF production; Mechanism: lowers choroid-plexus secretion; Caveat: evidence is mixed; shunting or endoscopic procedures remain standard. Side effects: metabolic acidosis, paresthesias, kidney stones. MedscapeNCBI
Furosemide (occasionally adjunct with acetazolamide) — Class: loop diuretic. Dose: ~1 mg/kg/dose; Mechanism: small CSF secretion effect; Note: weaker than acetazolamide; monitor electrolytes. PMC
Proton-pump inhibitor (e.g., omeprazole) — GI protection during steroid therapy; reduces gastritis/ulcer risk.
Calcium plus vitamin D — bone protection with chronic steroids; dosage individualized; prevents osteopenia/osteoporosis. (Also see supplements section.)
Antihypertensives (if steroid-induced hypertension occurs) — e.g., ACE inhibitors per pediatric protocols.
Antimicrobials as needed — prompt treatment of infections; peri-surgical prophylaxis for shunt or cleft palate surgery per hospital guidelines.
Analgesics (acetaminophen/ibuprofen) — pain control for contractures or post-op recovery.
Antiepileptic medication (only if seizures occur with Dandy-Walker/hydrocephalus) — individualized by neurology.
Eltrombopag (trial/adjunct in refractory DBA) — Class: thrombopoietin-receptor agonist. Status: pilot data show safety but low response for red cells in DBA; not standard of care. Only used in trials/specialist settings. Wiley Online Library
Dietary “molecular” supplements
Supplements do not cure Aase-Smith/DBA. Use them only with the treating team, especially if you receive transfusions or steroids.
L-Leucine — Dose used in trials: ~700 mg/m² orally three times daily for 9 months; Function/Mechanism: may stimulate protein synthesis/erythropoiesis and improve growth; Evidence: pilot studies showed hematologic and growth benefits in some DBA patients. PMC
Vitamin D3 — supports bone health on steroids; typical maintenance 600–1000 IU/day (more if deficient).
Calcium — 1000–1300 mg/day (diet + supplement) if steroid-exposed; pairs with vitamin D.
Vitamin K2 (menaquinone-7) — adjunct for bone quality in long-term steroid use (discuss with clinician).
Omega-3 fatty acids — anti-inflammatory support; typical 500–1000 mg/day EPA+DHA from diet/supplement.
Zinc — supports growth and immune function if deficient; avoid excess.
Folate — only if deficiency; it does not fix DBA’s marrow defect.
Vitamin B12 — only if deficient.
Magnesium — cramps/constipation support; watch kidney function.
Multinutrient, protein-adequate diet — aim for balanced calories and protein for wound healing (cleft repairs) and rehab.
(Always coordinate supplements with chelation: iron-overloaded patients should avoid iron pills and be cautious with high-dose vitamin C timed near transfusions.) PubMed
Advanced “regenerative / stem-cell / immune-support” therapies
Allogeneic HSCT (bone-marrow transplant) — replaces the faulty blood system with a healthy donor’s stem cells; potential cure for DBA’s anemia. Timing: used when steroid-refractory and transfusion-dependent or when toxicities are high. Risks: graft-versus-host disease, infections, infertility; outcomes are improving. ASHPublications
Reduced-toxicity conditioning HSCT — newer protocols aim to preserve fertility and reduce organ damage while maintaining engraftment. Haematologica
Autologous gene-corrected HSPC therapy (lentiviral RPS19) — investigational; goal is transfusion independence without a donor. Nature
CRISPR/Cas9 gene correction of ribosomal-protein mutations — preclinical/early translational; aims for a once-and-done fix in a patient’s own cells. Haematologica
Supportive immune care — full routine vaccinations, prompt fever evaluation, and IVIG only if clear antibody deficiency or post-transplant indications.
Leucine-based metabolic stimulation — see supplement section; still adjunctive, not a replacement for standard care. PMC
Surgeries
Ventriculoperitoneal (VP) shunt for hydrocephalus — thin tubing diverts excess cerebrospinal fluid to the abdomen to lower brain pressure; improves symptoms and protects brain development. Cleveland Clinic
Endoscopic third ventriculostomy (ETV) (selected cases) — creates a new fluid pathway inside the brain; sometimes used instead of a shunt. NCBI
Cleft palate repair (palatoplasty) — restores separation between nose and mouth; helps feeding, speech, and ear health. Children’s National Hospital
Clubfoot correction / tendon releases / osteotomies — straightens the feet/limbs to enable brace wear, standing, and walking; often followed by casting and PT. jposna.com
Shunt revisions and infection management — shunts may clog or get infected; prompt neurosurgical care is essential. Hydrocephalus Association
Prevention points
Prevent complications, since the core genetics can’t be prevented: early rehab to limit contractures; early cleft feeding strategies. Children’s National Hospital
Vaccinate on schedule (and as advised post-transplant) to reduce severe infections.
Iron-overload prevention: start chelation on time if transfusion-dependent; routine ferritin/liver-iron checks. PubMed
Bone protection on steroids: vitamin D, calcium, weight-bearing as tolerated.
Blood-pressure, glucose, and growth monitoring during steroid therapy. PMC
Shunt care plans: teach signs of malfunction or infection. Cleveland Clinic
Dental/ENT follow-up after cleft repair to prevent ear problems and speech delay. Children’s National Hospital
Genetic counseling before future pregnancies. NCBI
Avoid unnecessary iron supplements in transfusion-dependent patients; discuss vitamin C timing. PubMed
Regular cancer-risk surveillance per DBA guidelines (long-term). NCBI
When to see doctors urgently
Fever, lethargy, or pallor in a child with anemia or on steroids/after transplant.
Bulging soft spot, vomiting, rapid head growth, severe headache, drowsiness, or seizures — possible hydrocephalus pressure rise/shunt problem. Children’s National Hospital
Feeding trouble, choking, poor weight gain with cleft palate. Children’s National Hospital
Signs of iron overload (unexplained fatigue, heart palpitations, liver pain) in a transfusion-dependent patient. PubMed
Severe steroid side effects (vision change, high sugars, high BP, fractures). PMC
What to eat” and “what to avoid”
What to eat
Balanced calories and adequate protein (fish, eggs, lentils) to support growth, wound healing, and rehab.
Calcium- and vitamin-D-rich foods (milk/yogurt, small fish with bones, fortified options) for bone health if on steroids.
Iron-neutral diet (normal iron foods are fine unless your team advises restriction); focus on overall balance.
Fruits/vegetables and fiber for bowel regularity (some meds cause constipation).
Omega-3 sources (fish, walnuts) for general anti-inflammatory support.
What to avoid or limit
6) Iron pills unless your hematology team prescribes them (especially if you receive transfusions). PubMed
7) Mega-dose vitamin C right with iron-heavy meals in transfusion-dependent patients (it can increase iron absorption; timing matters—ask your team). PubMed
8) Excess salt if steroid-related hypertension or edema is present.
9) Grapefruit with certain meds (check for interactions).
10) Unpasteurized foods/undercooked meats if immunosuppressed post-transplant or on high-dose steroids.
FAQs
Is Aase-Smith one disease?
No. Type I = hydrocephalus/cleft/contractures. Type II = Diamond-Blackfan anemia (Aase syndrome). NCBIGenetic Diseases Info CenterWhat causes it?
Type I cause is unknown (likely genetic; sometimes autosomal dominant). Type II/DBA is usually due to ribosomal-protein gene mutations. Genetic Diseases Info CenterNCBIIs there a cure?
For DBA, HSCT can cure the hematologic problem. For Type I features (hydrocephalus/cleft/contractures), surgeries and therapies manage complications. PubMedDo steroids fix all cases of DBA?
No. Some respond; others need transfusions and chelation, and some proceed to HSCT. Diamond Blackfan Anemia FoundationAre there new treatments coming?
Yes—gene-therapy/editing approaches are advancing in labs/early studies. NatureHaematologicaWill my child walk/talk?
Many children improve with early PT/OT/speech therapy and needed surgeries; outcomes vary with severity. BioMed CentralWhat about learning?
Some children need individualized education plans, especially with Dandy-Walker-related delays or cleft-speech issues. Children’s National HospitalHow often are transfusions needed?
Often every 3–5 weeks in steroid-refractory DBA, personalized to targets and growth. PubMedWhy is chelation so important?
It prevents iron from building up in the heart, liver, and endocrine organs. NatureAre supplements safe?
Some (like vitamin D/calcium) are routine on steroids; L-leucine showed promise in small DBA studies. Always clear supplements with your team. PMCIs surgery always needed for hydrocephalus?
Often yes (VP shunt or ETV) when pressure is high or rising; medicines like acetazolamide may be short-term bridges only. NCBICan contractures be reversed?
They can be improved with early therapy, splinting, and sometimes surgery; early intervention matters. MedscapeWhat is the long-term outlook in DBA?
With modern care (steroids or transfusions + chelation, or HSCT), many individuals do well into adulthood; lifelong follow-up is needed. PubMedDo we need genetic testing?
It helps confirm DBA, guide counseling, and qualify for trials. NCBIWho should coordinate care?
A pediatric hematologist (for DBA) plus neurosurgery/ENT/orthopedics/rehab for Type I features, working together.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: September 01, 2025.
