acrocraniofacial dysostosis
Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018237
acrofacial dysostosis
is_a
Kaplan Plauchu Fitch syndrome
related
Kaplan-Plauchu-Fitch syndrome
exact
acrocraniofacial dysostosis
exact