Synonym(s): - Arthrogryposis multiplex congenita - pulmonary hypoplasia - FADS - Pena-Shokeir syndrome type 1
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DOK7	Q18PE1	610285
RAPSN	Q13702	601592

- Absence of palmar creases
- Arthrogryposis
- Camptodactyly of fingers
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Fetal immobility / abnormal fetal movements
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Intrauterine growth retardation
- Micrognathia / retrognathia / micrognathism / retrognathism
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cystic hygroma
- Depressed nasal bridge
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Polyhydramnios
- Scoliosis
- Stillbirth / neonatal death
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Dandy-Walker anomaly
- Pterygion
- Short bowel
- X-linked recessive inheritance