Frank-Ter Haar syndrome
A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0006816
arthropathy
excluded_subClassOf
MONDO:0018233
otopalatodigital syndrome spectrum disorder
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0019690
filamin-related bone disorder
is_a
Borrone Dermatocardioskeletal syndrome
exact
Borrone dermatocardioskeletal syndrome
related
Borrone di Rocco Crovato syndrome
exact
FTHS
related
Frank Ter Haar syndrome
related
Frank-Ter Haar syndrome
exact
Melnick-Needles syndrome, autosomal recessive
related
Ter Haar syndrome
exact
autosomal recessive Melnick-Needles syndrome (formerly)
related
megalocornea, multiple skeletal anomalies, and developmental delay
related
SPAC22H10.07