3mc syndrome 2

Preferred Label : 3mc syndrome 2;

Symbol : 3MC2;

CISMeF acronym : 3MC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osa syndrome; Oculo-skeletal-abdominal syndrome; Ptosis of eyelids with diastasis recti and hip dysplasia; Carnevale syndrome;

Description : The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70% to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40% to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20% to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collectin 11 gene (612502.0001);

Prefixed ID : #265050;

Details

Origin ID

265050;

UMLS CUI

C0796279;

CISMeF manual mappings
- 3MC syndrome 2 [DO Concept]
Currated CISMeF NLP mapping
- Carnevale syndrome [MeSH concept]
- Carnevale syndrome [ORDO Disease]
- carnevale syndrome [MeSH Supplementary Concept]
DO Cross reference
- 3MC syndrome 2 [DO Concept]
False automatic mappings
- Obstructive sleep apnoea [ICD-11 Category]
Genes related to phenotype
- Collectin 11 [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad forehead [HPO term]
- Broad philtrum [HPO term]
- Caudal appendage [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal tip [HPO term]
- Diastasis recti [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus inversus [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High nasal bridge [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hip dislocation [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the musculature [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Limited elbow movement [HPO term]
- Partial abdominal muscle agenesis [HPO term]
- Postnatal growth retardation [HPO term]
- Prominence of the premaxilla [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Strabismus [HPO term]
- Torticollis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- 3MC syndrome [ORDO Disease]
- Carnevale syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3MC syndrome 2 [DO Concept]
- Carnevale syndrome [MeSH concept]
- Carnevale syndrome [ORDO Disease]
- carnevale syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- 3MC syndrome [ORDO Disease]
- 3MC syndrome [DO Concept]

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