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) |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Ascites | 90% |
| Cataract | 90% |
| Dandy-Walker malformation | 90% |
| Epicanthus | 90% |
| Glaucoma | 90% |
| Increased nuchal translucency | 90% |
| Opacification of the corneal stroma | 90% |
| Polyhydramnios | 90% |
| Short stature | 90% |
| Skeletal muscle atrophy | 90% |
| Cognitive impairment | 50% |
| Microcephaly | 50% |
| Triangular face | 50% |
| Abnormal lung lobation | 7.5% |
| Abnormal nasal morphology | 7.5% |
| Abnormality of immune system physiology | 7.5% |
| Abnormality of skin pigmentation | 7.5% |
| Abnormality of the aorta | 7.5% |
| Acute leukemia | 7.5% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Apnea | 7.5% |
| Atria septal defect | 7.5% |
| Cafe-au-lait spot | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Depressed nasal ridge | 7.5% |
| Duodenal stenosis | 7.5% |
| Frontal bossing | 7.5% |
| Hearing abnormality | 7.5% |
| High forehead | 7.5% |
| Holoprosencephaly | 7.5% |
| Hypothyroidism | 7.5% |
| Intestinal polyposis | 7.5% |
| Intrauterine growth retardation | 7.5% |
| Low-set, posteriorly rotated ears | 7.5% |
| Multicystic kidney dysplasia | 7.5% |
| Muscular hypotonia | 7.5% |
| Myelodysplasia | 7.5% |
| Neoplasm of the colon | 7.5% |
| Neoplasm of the stomach | 7.5% |
| Nephroblastoma | 7.5% |
| Osteolysis | 7.5% |
| Ovarian neoplasm | 7.5% |
| Sarcoma | 7.5% |
| Seizures | 7.5% |
| Sloping forehead | 7.5% |
| Vaginal neoplasm | 7.5% |
| Agenesis of corpus callosum | - |
| Anteverted nares | - |
| Autosomal recessive inheritance | - |
| Bifid scrotum | - |
| Brachycephaly | - |
| Cerebellar hypoplasia | - |
| Cerebral hypoplasia | - |
| Combined immunodeficiency | - |
| Cryptorchidism | - |
| Depressed nasal bridge | - |
| Feeding difficulties in infancy | - |
| Generalized hypotonia | - |
| Generalized myoclonic seizures | - |
| Generalized tonic-clonic seizures | - |
| Hydrocephalus | - |
| Hypertelorism | - |
| Hypodysplasia of the corpus callosum | - |
| Hypospadias | - |
| Intellectual disability, profound | - |
| Leukemia | - |
| Long philtrum | - |
| Low-set ears | - |
| Malar flattening | - |
| Micropenis | - |
| Midface retrusion | - |
| Nystagmus | - |
| Oligohydramnios | - |
| Phenotypic variability | - |
| Posteriorly rotated ears | - |
| Postnatal growth retardation | - |
| Premature chromatid separation | - |
| Renal cyst | - |
| Rhabdomyosarcoma | - |
| Severe global developmental delay | - |
| Short neck | - |
| Short nose | - |
| Short sternum | - |
| Small for gestational age | - |
| Triangular mouth | - |
| Upslanted palpebral fissure | - |
| Ventriculomegaly | - |
| Wide nose | - |
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.
