X-linked mandibulofacial dysostosis
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0015334
obsolete branchial arch or oral-acral syndrome (obsolete MONDO:0015334)
excluded_subClassOf
MONDO:0018237
acrofacial dysostosis
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0000425
X-linked disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0015483
mandibulofacial dysostosis
is_a
MFD Toriello type
related
X-linked branchial arch syndrome
exact
X-linked mandibulofacial dysostosis with limb anomalies
exact
branchial arch syndrome X-linked
related
mandibulofacial dysostosis Toriello type
related
mandibulofacial dysostosis, Toriello type
exact
mandibulofacial dysostosis, X-linked
exact