3mc syndrome 3

Preferred Label : 3mc syndrome 3;

Symbol : 3MC3;

CISMeF acronym : 3MC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Facial clefting syndrome, gypsy type; Malpuech facial clefting 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 10 gene (COLEC10, 607620.0001);

Prefixed ID : #248340;

Details

Origin ID

248340;

UMLS CUI

C0796032;

CISMeF manual mappings
- 3MC syndrome 3 [DO Concept]
Currated CISMeF NLP mapping
- Malpuech facial clefting syndrome [Disease (Nov.)]
- Malpuech facial clefting syndrome [MeSH concept]
- Malpuech syndrome [ICD-11 More detail]
- Malpuech syndrome [ORDO Disease]
- malpuech facial clefting syndrome [MeSH Supplementary Concept]
DO Cross reference
- 3MC syndrome 3 [DO Concept]
Genes related to phenotype
- Collectin 10 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Auricular pit [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Blepharophimosis [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Diastasis recti [HPO term]
- Epicanthus inversus [HPO term]
- Facial cleft [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Highly arched eyebrow [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Micropenis [HPO term]
- Penoscrotal hypospadias [HPO term]
- Preaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Sacral dimple [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- 3MC syndrome [ORDO Disease]
- Malpuech syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3MC syndrome 3 [DO Concept]
- Malpuech facial clefting syndrome [MeSH concept]
- Malpuech facial clefting syndrome [Disease (Nov.)]
- Malpuech syndrome [ORDO Disease]
- malpuech facial clefting syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- 3MC syndrome [ORDO Disease]

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