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) |
| Ablepharon | Very frequent (present in 80%-99% of cases) |
| Absent eyebrow | Very frequent (present in 80%-99% of cases) |
| Absent eyelashes | Very frequent (present in 80%-99% of cases) |
| Delayed speech and language development | Very frequent (present in 80%-99% of cases) |
| Fine hair | Very frequent (present in 80%-99% of cases) |
| Hypoplasia of the zygomatic bone | Very frequent (present in 80%-99% of cases) |
| Microtia | Very frequent (present in 80%-99% of cases) |
| Redundant skin | Very frequent (present in 80%-99% of cases) |
| Sparse hair | Very frequent (present in 80%-99% of cases) |
| Underdeveloped nasal alae | Very frequent (present in 80%-99% of cases) |
| Wide mouth | Very frequent (present in 80%-99% of cases) |
| Abnormality of female external genitalia | Frequent (present in 30%-79% of cases) |
| Anteverted nares | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the nipples | Frequent (present in 30%-79% of cases) |
| Breast hypoplasia | Frequent (present in 30%-79% of cases) |
| Camptodactyly of finger | Frequent (present in 30%-79% of cases) |
| Corneal opacity | Frequent (present in 30%-79% of cases) |
| Cryptophthalmos | Frequent (present in 30%-79% of cases) |
| Dry skin | Frequent (present in 30%-79% of cases) |
| Excessive wrinkled skin | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Hypoplasia of penis | Frequent (present in 30%-79% of cases) |
| Hypoplasia of the maxilla | Frequent (present in 30%-79% of cases) |
| Microdontia | Frequent (present in 30%-79% of cases) |
| Myopia | Frequent (present in 30%-79% of cases) |
| Thin skin | Frequent (present in 30%-79% of cases) |
| Umbilical hernia | Frequent (present in 30%-79% of cases) |
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Abnormal hair pattern | Occasional (present in 5%-29% of cases) |
| Abnormality of skin pigmentation | Occasional (present in 5%-29% of cases) |
| Atresia of the external auditory canal | Occasional (present in 5%-29% of cases) |
| Corneal erosion | Occasional (present in 5%-29% of cases) |
| Growth delay | Occasional (present in 5%-29% of cases) |
| Omphalocele | Occasional (present in 5%-29% of cases) |
| Short upper lip | Occasional (present in 5%-29% of cases) |
| Talipes equinovarus | Occasional (present in 5%-29% of cases) |
| Thin vermilion border | Occasional (present in 5%-29% of cases) |
| Toe |
Occasional (present in 5%-29% of cases) |
| Abnormal nasal morphology | - |
| - | |
| - | |
| Hypertelorism | - |
| Microtia, third degree | - |
| Ventral hernia | - |
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