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) |
| Cutis laxa | 90% |
| Deep palmar crease | 90% |
| Lack of skin elasticity | 90% |
| Abnormality of adipose tissue | 50% |
| Abnormality of dental morphology | 50% |
| Abnormality of the hip bone | 50% |
| Alopecia | 50% |
| Cognitive impairment | 50% |
| Delayed eruption of teeth | 50% |
| Dry skin | 50% |
| Facial asymmetry | 50% |
| Hernia | 50% |
| Hypertelorism | 50% |
| Intrauterine growth retardation | 50% |
| Joint hypermobility | 50% |
| Kyphosis | 50% |
| Malar flattening | 50% |
| Microcephaly | 50% |
| Muscular hypotonia | 50% |
| Prematurely aged appearance | 50% |
| Skeletal muscle atrophy | 50% |
| Skin ulcer | 50% |
| Abnormality of retinal pigmentation | 7.5% |
| Atria septal defect | 7.5% |
| Myopia | 7.5% |
| Optic atrophy | 7.5% |
| Prominent occiput | 7.5% |
| Seizures | 7.5% |
| Short stature | 7.5% |
| Upslanted palpebral fissure | 7.5% |
| Abnormal isoelectric focusing of serum transferrin | - |
| Atrial septal aneurysm | - |
| Autosomal recessive inheritance | - |
| Congenital hip dislocation | - |
| Coxa vara | - |
| Cryptorchidism | - |
| Deep plantar creases | - |
| Delayed cranial suture closure | - |
| Delayed speech and language development | - |
| Epicanthus | - |
| Failure to thrive | - |
| Fragile nails | - |
| High palate | - |
| Hypoplasia of the musculature | - |
| Inguinal hernia | - |
| Intellectual disability | - |
| Long philtrum | - |
| Low-set ears | - |
| Microdontia | - |
| Nasal speech | - |
| Neonatal wrinkled skin of hands and feet | - |
| Osteopenia | - |
| Palmoplantar cutis laxa | - |
| Pectus excavatum | - |
| Pes planus | - |
| Premature rupture of membranes | - |
| Progressive microcephaly | - |
| Scapular winging | - |
| Scoliosis | - |
| Short nail | - |
| Slender long bone | - |
| Smooth philtrum | - |
| Sparse hair | - |
| Talipes equinovarus | - |
| Umbilical hernia | - |
| Wide anterior fontanel | - |
| Wide nasal bridge | - |
| Wormian bones | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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