Synonym: Oberklaid-Danks syndrome is a rare disorder with a range of clinical findings.
Gene: ASXL1
The condition is due to a de novo pathogenic variant.
Clinical features:
(1) growth failure, often starting in utero
(2) distinctive facial features
(3) intellectual disability
(4) microcephaly or trigoncephaly
(5) distinctive posture (flexion at the elbows, ulnar deviation and flexion of the wrists, flexion of the metacarpophalangeal joints)
(6) palate anomalies (cleft, high-arched, prominent palatine ridges)
(7) feeding difficulties with cyclic vomiting
(8) seizures
(9) minor cardiac anomalies and/or bradycardia
(10) recurrent respiratory infections
(11) obstructive sleep apnea
(12) high myopia
(13) truncal hypotonia with hypertonia of the extremities
Facial features may include:
(1) prominent metopic ridge
(2) hypotonic facies, full cheeks
(3) synophrys
(4) nevus flammeus
(5) prominent globes
(6) cleft lip
(7) widely set eyes
(8) micrognathia/retrognathia
Many of the clinical features improve or get less noticeable with age.
