KLHL7-related Bohring-Opitz-like syndrome
ORPHA:603689· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal