GeneReviews, an international point-of-care resource for busy clinicians, provides clinically
relevant and medically actionable information for inherited conditions in a standardized …

Costello syndrome (CS) is a rare congenital anomaly syndrome. Although it may be
classified as an “overgrowth” syndrome due to slightly increased birth weight and relative …

Costello syndrome (OMIM# 218040) is a distinctive rare multisystem disorder comprising a
characteristic coarse facial appearance, intellectual disabilities, and tumor predisposition. …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

Syndromic genetic conditions, in aggregate, affect 8% of the population 1 . Many syndromes
have recognizable facial features 2 that are highly informative to clinical geneticists 3 , 4 – 5 …

The underlying basis of many forms of syndromic craniosynostosis has been defined on a
molecular level. However, many patients with familial or sporadic craniosynostosis do not …

Holoprosencephaly (HPE) is the most common structural defect of the developing forebrain
in humans (1 in 250 conceptuses, 1 in 16,000 live-born infants 1, 2, 3). HPE is aetiologically …

Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can
support physicians in recognizing these patterns by associating facial phenotypes with the …

Blood cell formation is classically thought to occur through a hierarchical differentiation
process, although recent studies have shown that lineage commitment may occur earlier in …

Prader-Willi syndrome (PWS) is caused by the absence of paternally expressed, maternally
silenced genes at 15q11-q13. We report four individuals with truncating mutations on the …