[MIM 269 880]

(Aarskog-Ose-Pande syndrome, Rieger abnormality-partial lipodystrophy)Rare: < 1/106. Acronym for

- S hort stature (70 %)

- H yperextensibility of joints (35 %) or inguinal hernia or both

- O cular depression (100 %): sunken eyes

- R ieger's anomaly (77 %): Rieger anomaly = hypoplasia of iris and the chordae that connect the iris to the peripheral cornea; there are sometimes other anomalies of the iris that are associated: pupillary slot, corectopia (position anomaly), polycoria (multiple pupillae); congenital glaucoma

- T eething delay (94 %).

Autosomal dominant transmission, likely but cases of mosaicism have been described.

It seems that several genes may be responsible for this phenotype: PITX2 on 4q25 or BMP4 on 14q22.1-q22.2.

Besides the short stature, joint hyperlaxity and iris anomalies:

-        triangular face (very small chin: 80 %) with eyes sunken in orbits; thin nose wings (94 %);  midface hypoplasia, micrognathia (65 %)

-        sometimes: facial (100 %) or limbs lipodystrophy, diabetes mellitus, polycystic ovary syndrome, early nephrocalcinosis

-        sensorineural deafness

-        fine and dry skin appearing prematurely aged

Anesthetic implications:

check blood glucose; risk of difficult intubation ; deafness; risk of glaucoma

References : 

-         Singh A, Arora R, Singh P, Kapoor S. 
Short syndrome: an expanding phenotype. 
Indian Pediatr 2013; 50: 414-5

Updated: September 2018