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 nasal morphology | 90% |
| Blepharophimosis | 90% |
| Cognitive impairment | 90% |
| Cryptorchidism | 90% |
| Depressed nasal bridge | 90% |
| Feeding difficulties in infancy | 90% |
| Full cheeks | 90% |
| Hypothyroidism | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Mask-like facies | 90% |
| Microdontia | 90% |
| Muscular hypotonia | 90% |
| Narrow mouth | 90% |
| Prominent occiput | 90% |
| Ptosis | 90% |
| Short stature | 90% |
| Sloping forehead | 90% |
| Abnormality of dental enamel | 50% |
| Abnormality of periauricular region | 50% |
| Abnormality of the antihelix | 50% |
| Arachnodactyly | 50% |
| Atresia of the external auditory canal | 50% |
| Atria septal defect | 50% |
| Camptodactyly of finger | 50% |
| Camptodactyly of toe | 50% |
| Clinodactyly of the 5th finger | 50% |
| Complete atrioventricular canal defect | 50% |
| Conductive hearing impairment | 50% |
| Delayed eruption of teeth | 50% |
| Epicanthus | 50% |
| Everted lower lip vermilion | 50% |
| External ear malformation | 50% |
| Hypermetropia | 50% |
| Joint hypermobility | 50% |
| Long toe | 50% |
| Microcephaly | 50% |
| Myopia | 50% |
| Neurological speech impairment | 50% |
| Nystagmus | 50% |
| Open mouth | 50% |
| Patent ductus arteriosus | 50% |
| Pes planus | 50% |
| Polyhydramnios | 50% |
| Recurrent respiratory infections | 50% |
| Seizures | 50% |
| Sensorineural hearing impairment | 50% |
| Single transverse palmar crease | 50% |
| Strabismus | 50% |
| Tented upper lip vermilion | 50% |
| Ventricular septal defect | 50% |
| Visual impairment | 50% |
| Advanced eruption of teeth | 7.5% |
| Lacrimation abnormality | 7.5% |
| Neoplasm of the oral cavity | 7.5% |
| Patellar aplasia | 7.5% |
| Respiratory insufficiency | 7.5% |
| Scrotal hypoplasia | 7.5% |
| Abnormality of the foot | - |
| Anteverted nares | - |
| Autosomal dominant inheritance | - |
| Hearing impairment | - |
| Intellectual disability | - |
| Joint laxity | - |
| Long philtrum | - |
| Microtia | - |
| Proteinuria | - |
| Short nose | - |
| Smooth philtrum | - |
| Sparse eyebrow | - |
| Stenosis of the external auditory canal | - |
| Thin vermilion border | - |
| Wide nasal bridge | - |
| Widely spaced teeth | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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