3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.
The distinctive facial features of people with 3MC syndrome include widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip (cleft lip) with an opening in the roof of the mouth (cleft palate).
Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. Less often, individuals with 3MC syndrome can have abnormal fusion of certain bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an outgrowth of the tailbone (caudal appendage); a soft out-pouching around the belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, or genitals.
3MC syndrome encompasses four disorders that were formerly considered to be separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers now generally consider these disorders to be part of the same condition, which is called 3MC based on the initials of the older condition names.
Inheritance Pattern
Autosomal recessive
Other Names
Carnevale syndrome; Carnevale-Krajewska-Fischetto syndrome; Craniofacial-ulnar-renal syndrome; Craniosynostosis with lid anomalies; Malpuech facial clefting syndrome; Malpuech syndrome; Michels syndrome; Mingarelli syndrome; Oculo-skeletal-abdominal syndrome; Oculopalatoskeletal syndrome; OSA syndrome; Ptosis of eyelids with diastasis recti and hip dysplasia; Ptosis-strabismus-rectus abdominis diastasis
Related Genetics Topics
- COLEC11 — MedlinePlus Genetics
- MASP1 — MedlinePlus Genetics
- COLEC10 — MedlinePlus Genetics
Identifiers
- GTR: C0796032
- GTR: C0796059
- GTR: C0796279
- MeSH: D019465
- OMIM: 248340
- OMIM: 257920
- OMIM: 265050
- SNOMED CT: 720756005
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
