1. Diseases
  2. Myhre syndrome

Myhre syndrome

Disease Export to PDF
Name:
Myhre syndrome
Description:
A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common.
ORPHAcode:
2588
Synonyms:
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SMAD4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Rendu/Osler/weber (4 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ENG 100.00 1 Part of constitutional vascular panel
    SMAD4 100.00 1 Part of constitutional vascular panel
    GDF2 100.00 1 Part of constitutional vascular panel
    ACVRL1 100.00 1 Part of constitutional vascular panel