ODCs

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Lethal multiple pterygium syndrome

1 OMIM reference -
4 associated genes
39 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 21

Autosomal recessive multiple pterygium syndrome

1 OMIM reference -
1 associated gene
64 signs/symptoms

Lethal multiple pterygium syndrome

Autosomal recessive multiple pterygium syndrome

CHRNA1	(UniProt - OMIM)	CHRNG	(UniProt - OMIM)
CHRND	(UniProt - OMIM)
CHRNG	(UniProt - OMIM)
RAPSN	(UniProt - OMIM)


COMMON GENES	CHRNG


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CHRNA1	(0.55)	CHRNG

Citations in the biomedical literature:

Lethal multiple pterygium syndrome		Autosomal recessive multiple pterygium syndrome
	Synonym(s): - Autosomal recessive lethal multiple pterygium syndrome - LMPS		Synonym(s): - Autosomal recessive non-lethal multiple pterygium syndrome - EVMPS - Escobar syndrome - Escobar variant multiple pterygium syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anomalies of spine, vertebrae and pelvis - Arthrogryposis - Autosomal recessive inheritance - Camptodactyly of fingers - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cutaneous / amniotic bands / webbing of joints - Epicanthic folds - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intrauterine growth retardation - Long philtrum - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Popliteal web - Restricted joint mobility / joint stiffness / ankylosis - Undescended / ectopic testes / cryptorchidia / unfixed testes - Webbed neck / pterygium colli

Lethal multiple pterygium syndrome		Autosomal recessive multiple pterygium syndrome
	Very frequent - Broad nose / nasal bridge - Cystic hygroma - Early death / lethality - Hydrops fetalis - Polyhydramnios - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - X-linked recessive inheritance Frequent - Microstomia / little mouth - Short rib cage / thorax Occasional - Abnormal dermatoglyphics - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Diaphragmatic hernia / defect / agenesis - Intestinal / gut / bowel malrotation - Malignant hyperthermia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Structural anomalies of the kidney and the urinary tract - Structural anomalies of the nervous system - Synostosis		Very frequent - Pectus excavatum - Scoliosis - Sternal / sternum anomalies - Symphalangy of fingers - Syndactyly of fingers / interdigital palm Frequent - Absent / hypotonic / flaccid abdominal wall muscles - Anomalies of eyelids, eyelashes and lacrimal system - Cleft lip and palate - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Foot anomalies - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Late puberty / hypogonadism / hypogenitalism - Long face - Movement disorder - Pointed chin - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Telecanthus / canthal dystopy - Umbilical hernia - Vertebral segmentation anomaly / hemivertebrae Occasional - Abnormal gait - Anomalies of ear and hearing - Anomalies of the ribs - Anomalies of tongue, gingiva and oral mucosa - Aortic dilatation / dilation - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Conductive deafness / hearing loss - Dolichocephaly / scaphocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low hair line (back) - Micropenis / small penis / agenesis - Pterygion - Spina bifida occulta - Strabismus / squint - Structural anomalies of the digestive tract