Multiple pterygium syndrome, escobar variant

Preferred Label : Multiple pterygium syndrome, escobar variant;

Symbol : EVMPS;

CISMeF acronym : EVMPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple pterygium syndrome, nonlethal type; Pterygium colli syndrome; Pterygium syndrome; Multiple pterygium syndrome; Pterygium universale; Escobar syndrome;

Description : Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0001);

Prefixed ID : #265000;

Details

Origin ID

265000;

UMLS CUI

C0265261;

Automatic exact mappings (from CISMeF team)
- Escobar syndrome [ICD-11 More detail]
- Multiple pterygium syndrome [ICD-11 Sub-sub category]
CISMeF manual mappings
- nonlethal multiple pterygium syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Escobar Syndrome [NCIt concept]
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [DO Concept]
- multiple pterygium syndrome [MeSH Supplementary Concept]
DO Cross reference
- multiple pterygium syndrome [DO Concept]
Genes related to phenotype
- Cholinergic receptor, nicotinic, gamma polypeptide [OMIM gene]
HPO term(s)
- Abnormality of the neck [HPO term]
- Absence of labia majora [HPO term]
- Antecubital pterygium [HPO term]
- Anterior clefting of vertebral bodies [HPO term]
- Arachnodactyly [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary pterygium [HPO term]
- Bilateral camptodactyly [HPO term]
- Camptodactyly of toe [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital vertical talus [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Diaphragmatic eventration [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dysplastic patella [HPO term]
- Epicanthus [HPO term]
- Exostosis of the external auditory canal [HPO term]
- Fused cervical vertebrae [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intercrural pterygium [HPO term]
- Kyphosis [HPO term]
- Long clavicles [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Neck pterygia [HPO term]
- Neonatal respiratory distress [HPO term]
- Patellar aplasia [HPO term]
- Popliteal pterygium [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Rib fusion [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Talipes calcaneovalgus [HPO term]
- Talipes equinovarus [HPO term]
- Umbilical hernia [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Escobar Syndrome [NCIt concept]
- Escobar syndrome [MedDRA LLT]
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [MeSH Supplementary Concept]
- multiple pterygium syndrome [DO Concept]
- nonlethal multiple pterygium syndrome [Disease (Nov.)]

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