The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal form of the vertebral bodies | 90% |
| Abnormality of dental enamel | 90% |
| Abnormality of dental morphology | 90% |
| Abnormality of epiphysis morphology | 90% |
| Abnormality of the metacarpal bones | 90% |
| Anteverted nares | 90% |
| Brachydactyly syndrome | 90% |
| Cataract | 90% |
| Cognitive impairment | 90% |
| Delayed eruption of teeth | 90% |
| Delayed skeletal maturation | 90% |
| Depressed nasal bridge | 90% |
| Epicanthus | 90% |
| Malar flattening | 90% |
| Midline defect of the nose | 90% |
| Overfolded helix | 90% |
| Short nose | 90% |
| Short stature | 90% |
| Abnormality of the hip bone | 50% |
| Joint hypermobility | 50% |
| Muscular hypotonia | 50% |
| Ptosis | 50% |
| Scoliosis | 50% |
| Sensorineural hearing impairment | 50% |
| Abnormality of the upper urinary tract | 7.5% |
| Extrahepatic biliary duct atresia | 7.5% |
| Nystagmus | 7.5% |
| Strabismus | 7.5% |
| Ventricular septal defect | 7.5% |
| Vocal cord paresis | 7.5% |
| Anal atresia | 5% |
| Cryptorchidism | 5% |
| Omphalocele | 5% |
| Proximal placement of thumb | 5% |
| Rectovaginal fistula | 5% |
| Seizures | 5% |
| Atria septal defect | - |
| Atrioventricular canal defect | - |
| Autosomal recessive inheritance | - |
| Broad skull | - |
| Congenital cataract | - |
| Congenital hip dislocation | - |
| Coronal cleft vertebrae | - |
| Delayed ossification of carpal bones | - |
| Genu valgum | - |
| Hypoplasia of dental enamel | - |
| Hypoplasia of the corpus callosum | - |
| Hypoplasia of the odontoid process | - |
| Metaphyseal dysplasia | - |
| Polyhydramnios | - |
| Short humerus | - |
| Short metacarpal | - |
| Short phalanx of finger | - |
| Squared iliac bones | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
