Frias syndrome
A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0016912
partial deletion of the long arm of chromosome 14
is_a
14q22-q23 microdeletion syndrome
exact
14q22q23 microdeletion syndrome
exact
Del(14)(q22q23)
exact
Frias syndrome
exact
monosomy 14q22-q23
exact
monosomy 14q22q23
exact