Table 1.

Other obesity-related disorders with reported clinical and genetic findings.

Syndrome	Gene	Mode of Inheritance	Clinical Features	Reference
Borjeson–Forssman–Lehmann syndrome	PHF6	X-linked	Developmental delay Obesity Seizure Skeletal anomalies Large ears Hypogonadism Gynecomastia Distinctive facial features	[37]
Carpenter syndrome	RAB23	Autosomal recessive	Peculiar facies Brachydactyly of the hands Syndactyly Preaxial polydactyly Congenital heart defects Intellectual disability Hypogenitalism Obesity	[38]
Cornelia de Lange syndrome	NIPBL-CdLS, RAD21-CdLS, SMC3-CdLS, BRD4-CdLS, HDAC8-CdLS, SMC1A-CdLS	Autosomal dominant X-linked	Microcephaly Synophrys Short nasal bridge Long and/or smooth philtrum Highly arched palate with or without cleft palate Behavioral problems Micrognathia Hearing loss Tendency to overweight	[39]
CHOPS syndrome	AFF4	Autosomal dominant	Cognitive impairment Coarse facies Heart defects Obesity Short stature, and Skeletal dysplasia.	[40]
Chudley-Lowry syndrome	ATRX	X-linked	Intellectual disability Short stature Macrosomia Obesity Hypogonadism Distinctive facial features	[41]
Coffin–Lowry syndrome	RPS6KA3	X-linked	Severe intellectual disability Kyphoscoliosis, Behavioral problems, Progressive spasticity, Paraplegia, Sleep apnea Stroke	[42]
Kleefstra syndrome	EHMT1	9q34.3 deletion Autosomal dominant	Intellectual disability Obesity Hypotonia Congenital heart defects Genitourinary anomalies Seizures Distinctive facial features	[43]
Rubinstein–Taybi syndrome	CREBBP, EP300	Autosomal dominant	Distinctive facial features, Broad thumbs and halluces Short stature Intellectual disability Obesity in childhood or adolescence	[44]
Temple syndrome	Aberrations at the 14q32.2 imprinted region	Maternal disomy 14	Feeding difficulties Hypotonia Motor developmental delay Childhood-onset central obesity Mild facial dysmorphism	[45]