Marfanoid habitus-inguinal hernia-advanced bone age syndrome

Orpha code: 314041OMIM code:

Definition

Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).

Disease data
Classification

Malformation syndrome

ORPHA code
314041
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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