holoprosencephaly-craniosynostosis syndrome
Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.
MONDO:0015338
syndromic craniosynostosis
is_a
Camero-Lituania-Cohen syndrome
exact
Genoa syndrome
exact
Semilobar holoprosencephaly and primary craniosynostosis
related
camera Lituania Cohen syndrome
related
holoprosencephaly craniosynostosis
related