The Femoral Hypoplasia-Unusual Facies Syndrome (FH-UHS) is associated with multiple congenital anomalies. Its cause may be multifactorial.
Associations include:
(1) maternal diabetes
(2) rearrangment of 2q37
(3) oligohydramnios
The major features are:
(1) unilateral or bilateral femoral hypoplasia or aplasia.
(2) facial anomalies
Facial features may include:
(1) high forehead
(2) prominent eyes
(3) hypertelorism and/or slanting of the palpebral fissures
(4) short nose with anteverted nostrils and broad tip
(5) long philtrum with thin upper lip
(6) macrostomia
(7) cleft palate
(8) severe micrognathia
(9) bilateral hypoplastic ears
(10) short neck
Other anomalies may include:
(1) bifid hallux
(2) polydactyly
(3) genital anomalies
(4) hypoplasia or aplasia of the tibia and/or fibula
(5) other skeletal anomalies
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Specialty: Otolaryngology, Genetics
