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Lethal multiple pterygium syndrome
1 OMIM reference -
4 associated genes
9 connected diseases
39 signs/symptoms
Disease Type of connection
Postsynaptic congenital myasthenic syndromes
Autosomal recessive multiple pterygium syndrome
Fetal akinesia deformation sequence
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Congenital fiber-type disproportion myopathy
Congenital muscular dystrophy with integrin alpha-7 deficiency
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Synonym(s):
- Autosomal recessive lethal multiple pterygium syndrome
- LMPS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
1 MeSH reference: C537378
Gene symbol UniProt reference OMIM reference
CHRNA1 P02708100690
CHRND Q07001100720
CHRNG P07510100730
RAPSN Q13702601592
Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Camptodactyly of fingers
- Cutaneous / amniotic bands / webbing of joints
- Cystic hygroma
- Early death / lethality
- Epicanthic folds
- Hydrops fetalis
- Intrauterine growth retardation
- Polyhydramnios
- Popliteal web
- Restricted joint mobility / joint stiffness / ankylosis
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Webbed neck / pterygium colli
- X-linked recessive inheritance

Frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- 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
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Structural anomalies of the kidney and the urinary tract
- Structural anomalies of the nervous system
- Synostosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes