Prieur–Griscelli Syndrome
Prieur–Griscelli syndrome is another name for a very rare disease called neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic, cutaneous and articular syndrome ...
Rx Pregnancy, Baby & Mom Care
Chorea-Acanthocytosis
Chorea-acanthocytosis (often shortened to ChAc) is a very rare inherited brain and blood disease. It mainly affects movement, behaviour, and thinking. In this disorder, some red blood cells become ...
Notochordal Sarcoma
Notochordal sarcoma is another name doctors sometimes use for chordoma, a rare cancer that starts from tiny leftover pieces of the embryo’s notochord (a soft rod that later becomes part of the ...
Cholestasis of Pregnancy
Cholestasis of pregnancy, also called intrahepatic cholestasis of pregnancy (ICP), is a liver problem that happens only during pregnancy. In this condition, the normal flow of bile (a digestive fluid ...
Choanal Atresia with Radial Ray Hypoplasia
Choanal atresia with radial ray hypoplasia is a very rare birth syndrome. In this condition, the back part of the nose (the choanae) is blocked or too narrow, and the bones on the thumb-side of the ...
Neuroectodermal Syndromes
Neuroectodermal syndromes is a broad name for a group of rare genetic disorders that start very early in life, when the baby is still forming in the womb. The word neuro means “nervous system” ...
Neuroectodermal Dysplasia, CHIME Type
Neuroectodermal dysplasia, CHIME type (usually called CHIME syndrome), is a very rare genetic condition. It mainly affects the skin, eyes, heart, brain, and ears. Doctors place it in a group called ...
Neuroectodermal Dysplasia, CHIME Type
Neuroectodermal dysplasia, CHIME type, is another name for CHIME syndrome. This is a very rare disease that affects many parts of the body, especially the skin, eyes, brain, ears, and heart. Doctors ...
Inflammation of Myoseptum
Inflammation of myoseptum is another medical name for childhood type dermatomyositis, also called juvenile dermatomyositis (JDM). It is a rare disease in children where the immune system attacks tiny ...
Childhood Onset GLUT1 Deficiency Syndrome 2 (GLUT1DS2)
Childhood onset GLUT1 deficiency syndrome 2 (GLUT1DS2) is a rare brain disease that starts in childhood and mainly causes short attacks of strange movements in the arms or legs when the child ...
Pediatric Melanoma
Pediatric melanoma (also called childhood melanoma) is a cancer that starts in the pigment-making cells (melanocytes) of a child’s skin, eye, or very rarely inside the body. These cells normally give ...
Pyknolepsy
Pyknolepsy is an old medical word that doctors used for a special kind of epilepsy in children. Today it is mostly called childhood absence epilepsy. In this condition, a child has very short ...
Childhood Absence Epilepsy
Childhood absence epilepsy is a kind of epilepsy that starts in young children, usually between 4 and 10 years of age. In this condition, a child has many short “absence seizures” every day. During ...
Arnold–Chiari Malformation Type II
Arnold–Chiari malformation type II is a birth (congenital) problem of the back part of the brain and the upper spinal canal. In this condition, the lower parts of the brain (the cerebellum, ...
Charlie M Syndrome
Charlie M syndrome is an extremely rare condition present from birth that affects how the face, mouth, tongue, jaw, teeth, hands, and feet grow and form. Babies with this syndrome often have a very ...
CLN6 Late Infantile Neuronal Ceroid Lipofuscinosis
CLN6 late infantile neuronal ceroid lipofuscinosis (often called CLN6 late infantile NCL) is a rare, inherited brain disease in children. It happens when both copies of a gene called CLN6 are changed ...
Sacral Agenesis Syndrome
Sacral agenesis syndrome is a rare birth condition where the lowest part of the spine (the sacrum and often the coccyx and lower lumbar vertebrae) does not form fully or is completely absent before ...
Caudal Dysplasia Sequence
Caudal dysplasia sequence (also called caudal regression syndrome) is a rare birth condition in which the lower part of the baby’s body does not form normally in the womb. “Caudal” means the lower ...
Caudal Dysgenesis Syndrome (CDS)
Caudal dysgenesis syndrome (CDS) is a rare birth defect where the lower part of the baby’s spine and nearby organs do not form in the usual way during very early pregnancy. Doctors usually use the ...
Caudal Regression Sequence
Caudal regression sequence is a rare birth condition where the lower part of a baby’s spine and nearby organs do not form completely in the womb. It mainly affects the sacrum (the bone at the base of ...
Caroli Disease
Caroli disease is a rare, congenital (present from birth) condition of the bile ducts inside the liver. In this disorder, parts of the large intrahepatic bile ducts become abnormally widened ...
Lethal Neonatal Carnitine Palmitoyltransferase II (CPT II) Deficiency
Lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency is a very severe, inherited energy-use problem that appears in the first days of life. The body cannot properly use long-chain ...
Parkes Weber Syndrome (PWS)
Parkes Weber syndrome (PWS) is a rare condition present from birth where abnormal fast-flow connections form between arteries and veins (arteriovenous fistulas and arteriovenous malformations), often ...
Spongy Degeneration of White Matter in Infancy
Spongy degeneration of white matter in infancy is a rare, inherited brain disorder in which the white matter—the insulation that helps brain cells send fast, accurate signals—breaks down and looks ...
Multiple Birthmarks
Multiple birthmarks means a person has more than one mark on the skin that was present at birth or appeared in the first years of life. Birthmarks can be pigmented (from color-making cells called ...
Christian Brachydactyly
Christian brachydactyly is a very rare birth condition that affects the hands and feet. “Brachydactyly” means short fingers or toes. “Preaxial” means the thumb side of the hand and the big-toe side ...
Brachydactyly Type E
Brachydactyly type E is a birth condition where some of the long bones in the hands and feet are shorter than usual. The bones most often affected are the metacarpals in the hand and the metatarsals ...
Brachydactyly Type A7 (BDA7)
Brachydactyly type A7 (BDA7) is a very rare birth condition where some bones of the fingers and toes are shorter or shaped differently than usual. Doctors call it the “smorgasbord type” because the ...
Brachymesophalangy II and V
Brachymesophalangy means a short middle finger bone (middle phalanx). When doctors say “II and V”, they mean it affects the 2nd finger (index finger = II) and the 5th finger (little finger = V). So, ...
Brachydactyly type A4
Brachydactyly type A4 is a birth difference of the hands and feet where certain finger and toe bones are short or missing. In BDA4, the middle phalanges (the middle bones of the fingers) of the ...
Farabee-Type Brachydactyly (Brachydactyly Type A1, BDA1)
Farabee-type brachydactyly (BDA1) is a rare, inherited difference of the hands (and sometimes feet) where the middle finger bones (called middle phalanges) are short or even missing. The condition ...
Bowen-Conradi Hutterite Syndrome
Bowen-Conradi Hutterite Syndrome is a very rare inherited condition that affects many parts of a baby’s body before birth and after birth. It belongs to a group of disorders called ...
Bonnemann–Meinecke–Reich Syndrome
Bonnemann–Meinecke–Reich syndrome is an ultra-rare condition with multiple birth anomalies and early brain dysfunction. It typically shows up in the first year of life with slow development and an ...
Bloom–Torre–Machacek Syndrome
Bloom–Torre–Machacek syndrome is a rare, inherited condition. It affects growth, skin, the immune system, and cancer risk. Children are small at birth. They stay much shorter and thinner than others ...
Blepharophimosis–Intellectual Disability Syndrome (BIDS)
Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are shorter and narrower than usual. Many ...
Blepharocheilodontic Syndrome
Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and the teeth (-dontic). The most common ...
Paediatric Granulomatous Arthritis (PGA)
Paediatric granulomatous arthritis (PGA) is a rare, inherited, autoinflammatory disease that begins in early childhood. “Autoinflammatory” means the child’s innate immune system becomes too active ...
Congenital Exstrophy of the Urinary Bladder
Congenital exstrophy of the urinary bladder is a birth defect. The lower belly wall does not close in the middle during early pregnancy. The front of the bladder also stays open. At birth, the inside ...
Congenital Ectopic Bladder
Congenital ectopic bladder means a baby is born with the bladder sitting partly or fully outside the lower belly. The belly wall, pelvic bones, and urinary tract do not close properly before birth. ...
Bird-Headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, and Primary Gonadal Insufficiency
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency or Bangstad syndrome is a very rare inherited condition. Children are unusually ...
Binder Syndrome
Binder syndrome is a rare, birth-present (congenital) condition in which the middle part of the face and the nose do not grow normally. The front of the upper jaw (premaxilla) is small and set back, ...
Nuclear Jaundice
Nuclear jaundice means brain injury in a newborn caused by very high levels of unconjugated bilirubin (the yellow pigment that makes newborns look jaundiced). When bilirubin gets too high, it can ...
Perinatal Biliary Atresia
Perinatal biliary atresia is a disease of newborn babies. The small tubes that carry bile from the liver to the intestine are damaged and blocked. Bile cannot flow out. Bile builds up in the liver. ...
Brunzell Syndrome
“Brunzell syndrome” describes people who do not have normal body fat from birth. Because fat cells are missing, fat “spills” into organs like the liver and muscles. This causes very high blood fats ...
Berardinelli Lipodystrophy Syndrome
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic disease present from birth. In this condition, the body is missing almost all normal fat tissue under the skin and around organs. ...
Berardinelli–Seip Syndrome (Congenital Generalized Lipodystrophy)
Berardinelli-Seip syndrome is a rare genetic disease present from birth. The body is born with almost no fat tissue under the skin or around organs. Because fat tissue is missing, fat gets stored in ...
Berardinelli-Seip Congenital Lipodystrophy
Berardinelli–Seip congenital lipodystrophy is a rare genetic disease present from birth. Babies and children with this condition have almost no body fat under the skin and around organs. Because fat ...
Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy
Benign partial epilepsy with secondarily generalized seizures in infancy (now grouped by the International League Against Epilepsy under self-limited infantile epilepsy, often linked to PRRT2 ...
Benign Partial Epilepsy of Infancy with Complex Partial Seizures
Benign Partial Epilepsy of Infancy with Complex Partial Seizures—historically “benign familial (or non-familial) infantile seizures,” sometimes described as “self-limited infantile epilepsy ...
Benign Paroxysmal Torticollis of Infancy (BPTI)
Benign paroxysmal torticollis of infancy is a short-lasting, repeatable head-tilt problem that starts in babies. During an “attack,” a baby’s head tilts to one side (sometimes with a slight turn). ...
Self-Limited Familial Neonatal Epilepsy (SLFNE)
Self-limited familial neonatal epilepsy (SLFNE) is a genetic epilepsy that starts in the first days of life in otherwise healthy newborns. Seizures often appear between day 2 and day 7 after birth. ...
Benign Neonatal Familial Convulsions (BNFC)
Benign neonatal familial convulsions (BNFC) is a rare, inherited epilepsy syndrome. Seizures begin in otherwise healthy newborns, most often between day 2 and day 7 of life. The spells can look like ...
Benign Familial Neonatal Seizures (BFNS)
Benign familial neonatal seizures is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Seizures are brief, can come in clusters for a few days to weeks, ...
Benign Familial Neonatal Epilepsy (BFNE)
Benign familial neonatal epilepsy is a genetic epilepsy syndrome that starts in the first week of life in otherwise healthy newborns. Babies have short seizures that come in clusters over a few days ...
Benign Familial Neonatal Convulsions (BFNC)
Benign familial neonatal convulsions (BFNC) are brief seizures that start in the first days of life in otherwise healthy newborns, often occurring in clusters, and then stop by a few weeks or months ...
Benign Infantile Seizures Associated with Mild Gastroenteritis
Benign Infantile Seizures Associated with Mild Gastroenteritis is a short-lived seizure condition that happens in babies and young children during a mild stomach bug. The child has vomiting and/or ...
Benign Infantile Focal Epilepsy with Midline Spikes and Waves during Sleep (BIMSE)
Benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE) is a rare epilepsy syndrome that starts in very young children. “Infantile” means it begins in infancy or toddler ...
Hemifacial Hyperplasia–Strabismus Syndrome
Hemifacial hyperplasia–strabismus syndrome is a very rare birth condition where one side of the face grows more than the other and the eyes do not point in the same direction (strabismus). The ...
Bencze Syndrome
Bencze syndrome is an extremely rare birth condition. It causes one side of the face to grow a little more than the other, and it often appears together with crossed eyes (a type of strabismus). ...
Beare–Stevenson Cutis Gyrata Syndrome
Beare–Stevenson cutis gyrata syndrome (often shortened to “Beare–Stevenson syndrome” or “BSS”) is a very rare genetic condition. Babies are born with craniosynostosis, which means the skull bones ...
Barber–Say Syndrome (BSS)
Barber–Say syndrome is an extremely rare, present-at-birth (congenital) condition that mainly affects the skin, hair, eyelids, mouth, and facial shape. Babies have very thick body hair ...
Bamforth–Lazarus Syndrome
Bamforth–Lazarus syndrome is a very rare genetic condition. Babies are born with congenital hypothyroidism (the thyroid gland does not work or is missing), and they often have a cleft palate and ...
Axial Mesodermal Dysplasia Spectrum (AMDS)
Axial Mesodermal Dysplasia Spectrum (AMDS) is a rare condition that begins very early in pregnancy when the embryo is forming. It describes patients who show features from both the ...
Axenfeld Anomaly
Axenfeld anomaly is a birth-time (congenital) change in the front part of the eye. The clear window of the eye (cornea) has a rim inside it called Schwalbe’s line. In Axenfeld anomaly, this rim sits ...
Multiple Pterygium Syndrome (MPS)
Multiple pterygium syndrome (MPS) is a rare genetic condition that a baby is born with. The most noticeable signs are soft-tissue “webs” of skin (called pterygia) across joints—often the neck, ...
Hypohidrotic Autosomal Recessive Ectodermal Dysplasia (AR-HED)
Hypohidrotic autosomal recessive ectodermal dysplasia (AR-HED) is a group of genetic conditions where parts of the body that come from the “ectoderm” layer—such as sweat glands, hair, teeth, nails, ...
Autosomal Recessive Anhidrotic (Hypohidrotic) Ectodermal Dysplasia (ARHED)
Autosomal recessive anhidrotic/hypohidrotic ectodermal dysplasia (ARHED) is a rare inherited condition where parts of the body that come from the outer layer of the embryo (the ectoderm) do not form ...
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome is a rare inherited condition that affects structures that grow from the outer layer of the embryo (the ectoderm). The sweat glands, ...
Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome is a very rare, severe condition seen before birth or at delivery. “Posterior amelia” means both lower limbs fail to form (the legs ...
Autosomal Recessive Amelia
Autosomal recessive amelia means a baby is born without one limb or several limbs because both parents silently carried the same nonworking gene and each passed it to the child. “Autosomal recessive” ...
Autosomal Dominant Preaxial Polydactyly
Autosomal dominant preaxial polydactyly means a person is born with one or more extra digits on the preaxial side of a limb—the thumb side of the hand or the big-toe side of the foot—because of a ...
Popliteal Web Syndrome
Popliteal web syndrome means a baby is born with a tight web of skin and soft tissue behind the knee. This web tethers the thigh to the calf and blocks knee straightening, often causing a fixed bend ...
Houlston-Ironton-Temple (HIT) Syndrome
Houlston-Ironton-Temple (HIT) syndrome is an extremely rare pattern of birth differences. Babies are born with a serious heart wall problem called an atrioventricular septal defect (AVSD), narrow ...
Apple Peel Syndrome
Apple-peel syndrome is a rare birth condition where a baby’s small intestine is blocked and twisted in a spiral, much like the peel of an apple. Doctors also call it type IIIb jejunal atresia or ...
Thanatophoric Dysplasia Type 1 (TD1)
Thanatophoric Dysplasia Type 1 (TD1) is a genetic bone growth disorder that starts before birth and is obvious at birth. Babies with TD1 have very short arms and legs, a narrow chest, and changes in ...
Atelosteogenesis Type II
Atelosteogenesis type II is a very rare, very severe bone and cartilage growth disorder that begins before birth. It happens because the baby’s cartilage—the soft framework that later turns into ...
Ataxia Telangiectasia (A-T)
Ataxia-telangiectasia (A-T) is a rare, inherited condition that starts in childhood and affects many body systems. It is caused by harmful changes in both copies of the ATM gene. ATM is a “guardian” ...
Congenital Intrauterine Infection-Like Syndrome
Congenital intrauterine infection-like syndrome is a term doctors used when a baby looks as if they were infected in the womb (like TORCH infections such as cytomegalovirus or rubella), but all ...
Feeding Difficulties
Feeding difficulties means someone (most often an infant or child, but sometimes an adult) has ongoing problems with eating or drinking enough, or eating safely. It may involve poor appetite, picky ...
Severe Feeding Difficulties – Failure to Thrive – Microcephaly due to ASXL3 Deficiency
Severe feeding difficulties – failure to thrive – microcephaly due to ASXL3 deficiency (Bainbridge-Ropers/ASXL3-related disorder) is a rare genetic neurodevelopmental condition caused by ...
Bainbridge-Ropers Syndrome (BRS)
Bainbridge-Ropers syndrome (BRS) is a rare genetic condition that affects how a child develops from birth onward. It mainly causes developmental delay or intellectual disability, very delayed or ...
Intrauterine Synechiae
Intrauterine synechiae means thin bands or sheets of scar tissue that stick parts of the uterine cavity together. These scars form after injury or infection of the uterine lining (endometrium). They ...
Intrauterine Adhesions
Intrauterine adhesions (IUA) are bands of scar tissue that form inside the uterus. These bands can make parts of the uterine cavity stick together. When the lining of the uterus (the endometrium) is ...
Asherman Syndrome
Asherman syndrome means bands of scar tissue grow inside the uterus (womb) and sometimes the cervix after an injury or infection. These sticky bands are called adhesions or synechiae. They make parts ...
Arts Syndrome
Arts syndrome is a rare, inherited condition that mainly affects boys. It causes weak muscles from early life, unsteady movement (ataxia), severe hearing loss, poor vision due to optic nerve damage, ...
Kuskokwim Disease (Kuskokwim Syndrome)
Kuskokwim disease is a very rare, inherited condition in which children are born with joint contractures—joints that are stiff and cannot fully straighten or bend. The knee and ankle joints are most ...
Arthrogryposis-Like Syndrome
Arthrogryposis-like syndrome means a baby or child has stiff, fixed joints in more than one body area at birth, and the overall picture resembles arthrogryposis. The joints do not move normally ...
Distal Arthrogryposis Type 6 (DA6)
Distal arthrogryposis type 6 (DA6) is a very rare genetic condition where babies are born with stiff joints in the hands and feet (contractures) and sensorineural hearing loss. “Distal” means the ...
Arthrogryposis–Hyperkeratosis Syndrome (Lethal form)
Arthrogryposis–hyperkeratosis syndrome is an extremely rare genetic condition seen at birth. Babies are born with many stiff joints (called arthrogryposis) that cannot move well, and with very thick, ...
Stoll–Alembik–Finck Syndrome
Stoll–Alembik–Finck syndrome is a very rare genetic condition present from birth. Children have arthrogryposis (stiff joints and contractures in many body areas) and ectodermal changes (teeth missing ...
Oculomelic Amyoplasia
Oculomelic amyoplasia is an ultra-rare, inherited condition where a baby is born with tight joints in the arms and legs (called arthrogryposis) plus eye-movement problems such as droopy eyelids ...
Illum Syndrome
Illum syndrome is an extremely rare condition present at birth. Babies have many stiff joints (contractures), a very small, tight mouth that looks like a “whistling face,” and an almost ...
Arthrogryposis Multiplex Congenita—Whistling Face Syndrome
Arthrogryposis Multiplex Congenita—Whistling Face Syndrome is a rare, present-from-birth condition that affects the way muscles, joints, head, and face develop. Babies are born with tight joints ...
Arthrogryposis Multiplex Congenita 2 Neurogenic Type (AMC2)
Arthrogryposis multiplex congenita (AMC) describes babies born with stiff joints (contractures) in at least two different body areas because the baby did not move enough in the womb. “Neurogenic ...
Congenital Multiple Arthrogryposis (Arthrogryposis Multiplex Congenita)
Multiple congenital arthrogryposis is an umbrella term for conditions where a baby is born with stiff joints (contractures) in two or more body areas. The joints are fixed in a bent or straight ...
Congenital Arthromyodysplasia
“Congenital arthromyodysplasia” is an old medical label that appeared in mid-20th-century rheumatology papers. It described babies born with stiff, bent joints and reduced muscle bulk that made the ...
Arthrogryposis Multiplex Congenita (AMC)
Arthrogryposis Multiplex Congenita (AMC) is a group of rare conditions where a baby is born with stiff joints (contractures) in two or more body areas. “Multiplex” means many joints, and “congenita” ...
Arthrogryposis
Arthrogryposis means a baby is born with joints that are stiff and cannot move well because they are stuck in a bent or straight position. Doctors call these stiff joints contractures. If more than ...
Johnson–Munson Syndrome
Johnson–Munson syndrome is an extremely rare birth condition first described in two siblings, and later recognized as a triad of problems: (1) missing or very under-developed finger and toe bones ...
Antley-Bixler Syndrome (ABS)
Antley-Bixler syndrome is a rare genetic condition that affects how the skull, face, arms, legs, and some internal organs form before birth. The skull bones may fuse too early (craniosynostosis), the ...
Iridogoniodysgenesis
Iridogoniodysgenesis is a birth (congenital) condition where parts of the eye that control fluid drainage—the iris (the colored ring) and the trabecular meshwork/angle (the drain at the edge of the ...
Anterior Segment Dysgenesis (ASD) Types 3
Anterior Segment Dysgenesis (ASD) is a group of birth-time eye conditions where the front parts of the eye (the clear window called the cornea, the colored ring called the iris, and the angle that ...
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
Familial ocular anterior segment mesenchymal dysgenesis means a baby is born with parts at the very front of the eye (the cornea, iris, drainage angle, and nearby tissues) that did not develop in the ...
Anterior Segment Ocular Dysgenesis (ASD)
Anterior segment ocular dysgenesis is a group of birth-time (congenital) eye conditions in which the front structures of the eye—cornea, iris, lens, the drainage angle, and nearby tissues—do not form ...
Anterior Segment Mesenchymal Dysgenesis (ASD)
Anterior segment mesenchymal dysgenesis (ASD) is a group of birth-present (congenital) conditions where the front part of the eye does not form normally in the womb. The “anterior segment” includes ...
Anophthalmia/Microphthalmia–Esophageal Atresia (AEG) Syndrome
Anophthalmia/microphthalmia–esophageal atresia (AEG) syndrome is a rare genetic condition in which a baby is born with one or both eyes missing or very small (anophthalmia or microphthalmia) and also ...
Anophthalmia–Megalocornea–Cardiopathy–Skeletal Anomalies (AMCS) Syndrome
Anophthalmia–Megalocornea–Cardiopathy–Skeletal Anomalies (AMCS) syndrome is a multiple congenital anomalies disorder. Babies are born with a pattern of problems that mainly involve the eyes (ranging ...
Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies Syndrome (AMCS)
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (AMCS) is an extremely rare, multisystem genetic condition present from birth. It combines eye findings (ranging from anophthalmia—no ...
Fryns Microphthalmia Syndrome
Fryns microphthalmia syndrome is a very rare genetic condition in which a baby is born with absent eyes (anophthalmia) or very small eyes (microphthalmia) plus other features of the face and body, ...
Anophthalmia-Plus Syndrome
Anophthalmia-Plus Syndrome is a very rare multiple congenital anomaly condition in which a baby is born with no eyes (anophthalmia) or very small eyes (severe microphthalmia) plus malformations in ...
Kumar–Levick Syndrome
Kumar–Levick syndrome is an old eponym used in the limb-malformation literature for a family in which several members had striking nail underdevelopment or absence (onychodystrophy/anonychia) ...
Anonychia Onychodystrophy with Brachydactyly Type B and Ectrodactyly
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly is a very rare, inherited hand/foot difference. People have missing or severely under-developed nails (anonychia) or nail ...
