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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2565
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Synostosis of carpals/tarsals|
|Aplasia of the distal phalanx of the 2nd finger|
|Coalescence of tarsal bones|
|Proximal fibular overgrowth|
|Short first metatarsal|
|Midfrontal capillary hemangioma|
|Absent distal phalanges|
|Absent distal phalanx of the 2nd toe|
|Mild short stature|
|Short 1st metacarpal|
|X-linked dominant inheritance|
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