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 movement||90%|
|Absent palmar crease||90%|
|Aplasia/Hypoplasia of the lungs||90%|
|Camptodactyly of finger||90%|
|Intrauterine growth retardation||90%|
|Limitation of joint mobility||90%|
|Prenatal movement abnormality||90%|
|Depressed nasal bridge||50%|
|Low-set, posteriorly rotated ears||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of pelvic girdle bone morphology||-|
|Abnormality of the abdomen||-|
|Absent septum pellucidum||-|
|Autosomal recessive inheritance||-|
|Cavum septum pellucidum||-|
|Depressed nasal tip||-|
|Fetal akinesia sequence||-|
|Posteriorly rotated ears||-|
|Rocker bottom foot||-|
|Short palpebral fissure||-|
|Short umbilical cord||-|
|Slender long bone||-|
|Small for gestational age||-|
|Ulnar deviation of the hand or of fingers of the hand||-|
Autosomal recessive inheritance of FADS has been implied in several published cases. Genes in which mutations have been detected in affected individuals include the RAPSN and DOK7 genes. According to current literature, the recurrence risk is estimated to be 10–25%.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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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I've had three consecutive cases of Pena-Shokeir. Is there any kind of test available that can assure me an unaffected pregnancy? Are the genes detectable? What are the genes involved and how can I get them tested? See answer