Table 2. Typical and overlapping features of some common chromatinopathy syndromes.

	CdLS	RTS	WDST	KBG	Kabuki	Coffin-Siris syndrome
Gene(s)	NIPBL, SMC1A, SMC3, HDAC8, RAD21	CBP , EP300	KMT2A	ANKRD11	KMT2D, KDM6A	ARID1A / B , SMARCA4B1/C2/D1/E1, SOX4/11, DPF2, BICRA
Disturbance in epigenetic function	Chromatin remodeling and histone deacetylation (HDAC8)	Histone acetylation	Histone methylation	Histone deacetylation	Histone methylation and demethylation	Chromatin remodeling
Growth	Pre-and postnatal retardation	Postnatal growth retardation	Postnatal growth retardation, short stature	Height <10 th centile	Short stature	Postnatal growth retardation
Head size	Micro/brachycephaly	–	–	–	Microcephaly	–
Eyes
Eyebrows	Arched	Arched	Arched, broad	Bushy, wide	Arched, broad, laterally sparse	Bushy eyebrows
Synophrys	+	–	+	+	–	+
Palpebral fissure (PF)	–	Downslanted PF	Vertically narrow PF	–	Long PF, eversion of lateral third of lower eyelid	–
Hypertelorism	–	–	–	+	–	–
Nose
Nasal ridge	Short nose	Convex	–	–	–	–
Nasal bridge	–	–	Broad	Prominent	–	–
Nasal tip	Upturned	–	Bulbous	Bulbous	Depressed	–
Columella	–	Overhanging beyond alae nasi	–	–	Short	–
Alae nasi	Anteverted	–	–	–	–	–
Upper lip
Philtrum	Long smooth	–	Long smooth	Long smooth	–	–
Vermillion	Thin	–	Thin	Thin	–	Lower lip thick, everted
Hirsutism	+	–	+	+	+	+
Generalized/localized hypertrichosis	+	–	+	+	+	+
Skeletal/limb anomalies	Severe to mild (phocomelia to short index finger/clinodactyly)	Broad thumb/Hallux	Puffy hands and tapering fingers or fleshy hands	Brachydactyly	Persistent fingertip pads, brachydactyly	Hypoplasia of nails/digits (most often the fifth)
Unique feature	–	Grimacing smile	–	Macrodontia	Lateral abnormalities in eye	–
Others	Congenital diaphragmatic hernia	Cryptorchidism	Immunodeficiency	Cryptorchidism, seizures, palate abnormality, autism, large AF or delayed closure	Prominent cupped ears, Immunodeficiency	–