[MIM 140 400]

(hemifacial microsomy-radial abnormalities)

Very rare. Association to varying degrees of uni- or bilateral craniofacial malformation and radial abnormalities.

The characteristic signs are:

• low birth weight,
• short stature,
• vertebral abnormalities,
• hearing loss
• facial dysmorphism: facial asymmetry, malformations of the outer, middle and inner ear, orofacial clefts, mandibular hypoplasia.
• radial abnormalities such as preaxial polydactyly, hypoplasia/agenesis of the thumb and/or radius, or triphalangated thumb.

Cardiac, pulmonary, renal and central nervous system involvement has also been reported.

Anesthetic implications:

Echocardiography, risk of difficult mask ventilation and intubation

References :

-        Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS.
PGAP3-related hyperphosphatasia with mental retardation syndrome : report of 10 new patients and a homozygous founder mutation.
Clinical Genetics 2017 ; doi.org/10.1111/cge.13033

Update: November 2021