The Xia-Gibbs syndrome is a rare disorder associated with mutations at AHDC1.

Gene: AHDC1 (AT-hook DNA binding motif containing 1

Location: 1p36.11-p35.3


Clinical features:

(1) language delay

(2) sleep apnea

(3) hypotonia

(4) scoliosis

(5) seizures

(6) autism spectrum

(7) thinning of the corpus callosum

(8) posterior fossa cysts


Facial dysmorphism may include:

(1) broad forehead

(2) hypertelorism

(3) flat nasal bridge

(4) thin upper lip

(5) small ear lobes

(6) upturned earlobes

(7) low-set ears

(8) protuberant ears

(9) deep-set eyes

(10) slanting (up or down) palpebral fissures

(11) mild ptosis

(12) esotropia/strabismus

(13) micrognathia

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