- Deletion in 16p13.3 in 25%; most cases are sporadic
- General: short stature, MR
- Head/Facies: microcephaly, antimongoloid slant of palpebral
fissures (medially tilted up), mild ptosis, glaucoma, hypoplastic
maxilla, beaked nose (columella protruding below the alae nasi on
lateral view, posteriorly rotated ears. Facial features become more marked
- Extremities: broad thumbs and toes, occasionally bifid or with
deviation, tips of other fingers may be spatulate
- Congenital Heart Disease
- "Tired bird that got surprised by a bird... Rubinstein-tayBEAK...
- ?kreb binding protein deficiency? <- this statement unconfirmed.
CHLA Board Review
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes