3MC SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: MALPUECH FACIAL CLEFTING SYNDROME, FORMERLY
FACIAL CLEFTING SYNDROME, GYPSY TYPE
3MC3
Number of Symptoms 14
OrphanetNr:
OMIM Id: 248340
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis 257 / 7739
2
(HPO:0000048) Bifid scrotum 36 / 7739
3
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000808) Penoscrotal hypospadias 4 / 7739
6
(HPO:0000316) Hypertelorism 644 / 7739
7
(HPO:0000175) Cleft palate 349 / 7739
8
(HPO:0002553) Highly arched eyebrow 92 / 7739
9
(HPO:0000204) Cleft upper lip 193 / 7739
10
(HPO:0000581) Blepharophimosis 197 / 7739
11
(HPO:0000508) Ptosis 459 / 7739
12
(HPO:0000365) Hearing impairment 539 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0008897) Postnatal growth retardation 113 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM In France, Malpuech et al. (1983) studied 4 of at least 15 persons in a Gypsy family afflicted with mental and physical growth retardation, hypertelorism, facial clefting, and urogenital anomalies including micropenis, penoscrotal hypospadias, ectopic testis, and, judging ...