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) |
| Abnormality of the antihelix | 90% |
| Aplasia/Hypoplasia of the eyebrow | 90% |
| Behavioral abnormality | 90% |
| Blepharophimosis | 90% |
| Cryptorchidism | 90% |
| Depressed nasal ridge | 90% |
| External ear malformation | 90% |
| Highly arched eyebrow | 90% |
| Lack of skin elasticity | 90% |
| Long philtrum | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Pointed helix | 90% |
| Sacrococcygeal pilonidal abnormality | 90% |
| Telecanthus | 90% |
| Abnormality of dental morphology | 50% |
| Abnormality of the nipple | 50% |
| Camptodactyly of finger | 50% |
| Cognitive impairment | 50% |
| Limitation of joint mobility | 50% |
| Microcephaly | 50% |
| Sandal gap | 50% |
| Short neck | 50% |
| Abnormal hair quantity | 7.5% |
| Abnormality of the eyelashes | 7.5% |
| Abnormality of the nares | 7.5% |
| Craniosynostosis | 7.5% |
| Finger syndactyly | 7.5% |
| Abnormality of the teeth | - |
| Autosomal recessive inheritance | - |
| Broad neck | - |
| Camptodactyly | - |
| Clinodactyly | - |
| Depressed nasal bridge | - |
| Frontal bossing | - |
| Frontal upsweep of hair | - |
| Happy demeanor | - |
| High palate | - |
| Hypertelorism | - |
| Hypoplasia of the maxilla | - |
| Hypoplastic nipples | - |
| Joint contracture of the hand | - |
| Labial hypoplasia | - |
| Low anterior hairline | - |
| Low-set ears | - |
| Mask-like facies | - |
| Micropenis | - |
| Narrow forehead | - |
| Narrow mouth | - |
| Posteriorly rotated ears | - |
| Postnatal microcephaly | - |
| Prominent glabella | - |
| Retrognathia | - |
| Short nose | - |
| Short palpebral fissure | - |
| Smooth philtrum | - |
| Sparse eyebrow | - |
| Sparse eyelashes | - |
| Sporadic | - |
| Tapered finger | - |
| Wide nasal bridge | - |
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.
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.
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