Baller-Gerold Syndrome

Mutations in the RECQL4 gene also cause Rothmund-Thomson syndrome and RAPADILINO syndrome. Some clinical features of these conditions overlap, like short stature and radial ray malformations. As such, there is an ongoing discussion about whether they are separate syndromes or part of one common group.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities, and an increased risk of cancer, especially bone cancer (osteosarcoma). Patients typically begin having signs of RTS during infancy, and the first feature to appear is a rash that starts on the cheeks and later spreads to other parts of the body. The rash gradually becomes chronic and persists for life and is called poikiloderma. Other features may appear that involve other areas of the body such as the eyes, bones, teeth, and hair, and patients may often be small in size compared to their peers. Patients are at an increased risk for developing cancer, particularly certain types of skin and bone cancer. Lifespan is generally felt to be normal in the absence of death due to cancer, although follow-up data in the published literature are limited. RTS is inherited as an autosomal recessive genetic condition. The gene defect in two-thirds of cases is due to mutations in the RECQL4 gene. For the other one-third of patients, the gene(s) involved has not yet been identified. Alopecia, or hair loss, and a lack of eyelashes and eyebrows, are unique features of RTS in contrast to BGS and RAPADILINO syndrome. (For more information on this disorder, choose “Rothmund-Thomson syndrome” as your search term in the Rare Disease Database.)

RAPADILINO syndrome

RAPADILINO syndrome is a very rare, autosomal recessive disorder, the acronym of which stands for radial ray defect; patellae hypoplasia, or aplasia, and cleft or highly arched palate; diarrhea and dislocated joints; little size and limb malformation; nose slender and normal intelligence. The condition involves skeletal defects, including cervical spine segmentation defects, as well as feeding difficulties and juvenile diarrhea. There is also an increased risk for certain types of cancer, including osteosarcoma and lymphoma. These cancers may occur early in life, as four patients were diagnosed before age 35. About 17 cases of RAPADILINO syndrome have been reported in the medical literature. Of these, 14 came from families in Finland. RAPADILINO syndrome is thought to be caused by one or more mutations in the RECQL4 gene. (For more information on this disorder, choose “RAPADILINO syndrome” as your search term in the Rare Disease Database.)

Symptoms of the following disorders can be similar to those of Baller-Gerold Syndrome. Comparisons may be useful for a differential diagnosis:

Crouzon disease

Crouzon syndrome is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is the premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, these bones fuse to form the skull. In Crouzon syndrome, the sutures fuse prematurely affecting the proper growth of the skull and head and potentially altering the shape and development of the skull. Certain bones in the face may be affected as well. The severity of craniosynostosis can be different in one infant when compared to another. Symptoms primarily include abnormalities of the face and head. Intelligence is usually not affected. Crouzon syndrome is caused by alterations (mutations) in one of the FGFR genes, usually FGFR2, and is inherited in an autosomal dominant manner. (For more information on this disorder, choose “Crouzon Disease” as your search term in the Rare Disease Database.)

Fanconi anemia

Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed before age 10, while about 10% are diagnosed as adults. Early diagnoses are facilitated in patients with birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small eyes, abnormal kidney structures, and cardiac and skeletal anomalies. The disorder is often associated with a progressive deficiency of all bone marrow production of blood cells, red blood cells, white blood cells, and platelets. Affected individuals have an increased risk of developing cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML), or tumors of the head, neck, skin, gastrointestinal system, or genital tract. FA occurs equally in males and females and is found in all ethnic groups. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inheritance has also been reported. (For more information on this disorder, choose “Fanconi anemia” as your search term in the Rare Disease Database.)

Fetal valproate syndrome

Fetal valproate syndrome (FVS) is a rare condition that is caused by exposure of the unborn baby to valproic acid or sodium valproate (da pro, Depakene, Depakote, Depakote sprinkle, Divalproex, epical, myproic acid) during the first three months of pregnancy (the first trimester). Valproic acid is a medication used to treat certain types of seizures (epilepsy), bipolar disorder, and migraines. Although many babies exposed to valproic acid are born healthy, a small percentage of pregnant women who take this medication can have a baby born with FVS. The exact prevalence of this condition remains to be established. Symptoms of this condition may include neural tube defects such as spina bifida, distinctive facial features, congenital heart defects, and other musculoskeletal abnormalities

Symptoms