[MIM 614 813]

Acronym for Short stature, Onychodysplasia, Facial dysmorphism and hypoTrichosis.

Incidence: < 1/106. Autosomal recessive transmission of a mutation of the POC1A gene (3p21.2). This gene codes for a protein that plays a key role in the centrosome during cell mitosis (form of ciliopathy).

Primary bone dysplasia characterized by:

-         a severe form of pre-and post-natal short stature, unresponsive to growth hormone treatment, with meta- or epiphyseal anomalies (92 %), hip dysplasia

-        facial dysmorphism (100 %): dolichocephaly, elongated triangular face, high forehead, downslanting palpebral fissures, epicanthus, prominent nose, long philtrum, large ears, small teeth

-        appearance, at an early stage or after puberty, of short, sparse hair and nail anomalies.

-        small hands with brachydactyly (short, square-looking fingers) (100 %) and clinodactyly of the fifth finger,

-        a high-pitched voice

-        insulin resistance (100 % biological), with dyslipidemia and hepatic steatosis

-        diabetes mellitus (58 %)

-        and sometimes acanthosis nigricans on the folds.

-        occasionally thyroid disorders.

Anesthetic implications: 

short stature, check blood sugar and thyroid hormones; risk of hypertriglyceridemia and hepatic steatosis.

References :  

-          Ko JM, Soyoon Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim O-H, Cho T-J.
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestations.
J Human Genetics 2016 ; 61 : 561-4

-        Perge K, Capel E, Senée V, Julier C, Vigouroux C, Nicolino M.
Ciliopathies are responsible for short stature and insulin resistance: a systematic review of this clinical association regarding SOFT syndrome.
Reviews in Endocrine and Metabolic Disorders 2024 ; doi.org/10.1007/s11154-024-09894-w

Updated: September 2024