ORPHA:664923

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

Synonyms: NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome	NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies
fr	Syndrome d'arthrogrypose congénitale-microcéphalie-dysmorphie faciale-retard sévère du développement	Syndrome de NEDMABA · Syndrome de retard global de développement-microcéphalie-arthrogrypose-anomalies cérébrales structurelles
de	Kongenitale Arthrogrypose-Mikrozephalie-Gesichtsdysmorphien-schwere neurologische Entwicklungsverzögerung-Syndrom	NEDMABA · Neurologische Entwicklungsstörung mit Mikrozephalie, Arthrogrypose und strukturellen Hirnanomalien
es	Síndrome de artrogriposis-microcefalia-dismorfia facial-retraso grave del neurodesarrollo congénito	Trastorno NEDMABA · Trastorno del neurodesarrollo-microcefalia-artrogriposis-anomalías estructurales cerebrales
it	Sindrome artrogriposi congenita -microcefalia-dismorfismi facciali-grave ritardo dello sviluppo neurologico	Malattia NEDMABA · Malattia del neurosviluppo-microcefalia-artrogriposi-anomalie strutturali del cervello
nl	Congenitale artrogrypose - microcefalie - faciale dysmorfie - ernstige neurologische ontwikkelingsachterstand-syndroom	NEDMABA-aandoening · Neurologische ontwikkelingsstoornis - microcefalie - artrogrypose - structurele hersenanomalieën
pt	Síndrome de artrogripose congénita-microcefalia-dismorfia facial-perturbação grave do neurodesenvolvimento	Doença NEDMABA · Doença do neurodesenvolvimento-microcefalia-artrogripose-anomalias estruturais cerebrais
pl	Zespół wrodzonej artrogrypozy, małogłowia, dysmorfii twarzy i ciężkiego opóźnienia neurorozwojowego	= en
cs	Syndrom zahrnující vrozenou artrogrypózu, mikrocefalii, faciální dysmorfii a těžké opoždění neurologického vývoje	= en
uk	Синдром вродженого артрогрипозу-мікроцефалії-дизморфізму обличчя-тяжкої затримки нейророзвитку	Хвороба NEDMABA · Порушення нейророзвитку-мікроцефалія-артрогрипоз-структурні аномалії головного мозку

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618622	E		validated
ICD-10	Q87.8	NTBT	attributed	validated
MONDO	0032838	E		validated
MONDO	32838	E		validated
UMLS	C5231431	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (4):

ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SMPD4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:32949	ENSG00000136699	610457	2q21.1	sphingomyelin phosphodiesterase 4	31495489[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/664923
This record as JSON: /data/d/664923.json