Not that much known about it because rare but main feature is poor growth and development. At the beginning, well when diagnosed anyway, they said he may never walk talk etc. No-one knew what his potential was but he is doing really well. [netmums.com]

insufficiency Respiratory impairment 0002093 Short distal phalanx of finger Short outermost finger bone 0009882 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Urogenital fistula 0100589 [rarediseases.info.nih.gov]

[…] to thrive Highly arched palate Bilateral hydronephrosis Delayed gross motor skills Mechanisms of ring formation [ edit ] By two DNA breaks, one in each arm of the same chromosome, followed by fusion of the proximal broken ends. [en.wikibooks.org]

Showing of 11 80%-99% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Low posterior hairline Low hairline at back of neck 0002162 Macrotia Large ears [rarediseases.info.nih.gov]

Showing of 11 80%-99% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Low posterior hairline Low hairline at back of neck 0002162 Macrotia Large ears [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Urogenital fistula 0100589 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose [rarediseases.info.nih.gov]