ODCs

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1 OMIM reference -
4 associated genes
39 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 15

2 OMIM references -
2 associated genes
26 signs/symptoms

Lethal multiple pterygium syndrome

Fetal akinesia deformation sequence

Citations in the biomedical literature:

Lethal multiple pterygium syndrome		Fetal akinesia deformation sequence
	Synonym(s): - Autosomal recessive lethal multiple pterygium syndrome - LMPS		Synonym(s): - Arthrogryposis multiplex congenita - pulmonary hypoplasia - FADS - Pena-Shokeir syndrome type 1

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537378		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Arthrogryposis - Autosomal recessive inheritance - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cystic hygroma - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios - Restricted joint mobility / joint stiffness / ankylosis - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance

Lethal multiple pterygium syndrome		Fetal akinesia deformation sequence
	Very frequent - Broad nose / nasal bridge - Cutaneous / amniotic bands / webbing of joints - Early death / lethality - Epicanthic folds - Hydrops fetalis - Popliteal web - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Webbed neck / pterygium colli Frequent - Long philtrum - Microstomia / little mouth - Short rib cage / thorax Occasional - Abnormal dermatoglyphics - Anomalies of spine, vertebrae and pelvis - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Intestinal / gut / bowel malrotation - Malignant hyperthermia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Structural anomalies of the kidney and the urinary tract - Structural anomalies of the nervous system - Synostosis		Very frequent - Absence of palmar creases - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Fetal immobility / abnormal fetal movements - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Talipes-varus / metatarsal varus Frequent - Depressed nasal bridge - Scoliosis - Stillbirth / neonatal death Occasional - Dandy-Walker anomaly - Pterygion - Short bowel