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 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: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CHRNG	P07510	100730

- Autosomal recessive inheritance
- Cutaneous / amniotic bands / webbing of joints
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Sternal / sternum anomalies
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm
- Webbed neck / pterygium colli

- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of spine, vertebrae and pelvis
- Arthrogryposis
- Camptodactyly of fingers
- Cleft lip and palate
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Epicanthic folds
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypertelorism
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Long face
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Movement disorder
- Pointed chin
- Popliteal web
- 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

- 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
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Low hair line (back)
- Micropenis / small penis / agenesis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pterygion
- Spina bifida occulta
- Strabismus / squint
- Structural anomalies of the digestive tract
- Undescended / ectopic testes / cryptorchidia / unfixed testes