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Don’t fight Bowen-Conradi syndrome alone.
Find your community on the free RareGuru App.Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hypoplasia of the bladder |
| Sparse eyebrow |
| Cryptorchidism |
| Rocker bottom foot |
| Camptodactyly of finger |
| Clinodactyly of the 5th finger |
| Severe intrauterine growth retardation |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Abnormal lung lobation |
| Cerebral hemorrhage |
| Abnormality of cardiovascular system morphology |
| Oral cleft |
| Seizures |
| Ventriculomegaly |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Limb apraxia |
| Abnormality of neutrophil morphology |
| Abnormal joint morphology |
| Autosomal recessive inheritance |
| Small for gestational age |
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