Syndrome | Gene | Locus | Inheritance | Features |
Beckwith-Wiedemann[1] MIM #130650 | H19; IGF2; KCNQ1; CDKN1C | 11p15 | Complex – Can be autosomal dominant, contiguous gene duplication at 11p15, or genomic imprinting | Macroglossia, abdominal wall defects, lateralized overgrowth, embryonal tumors |
Kabuki[2] MIM #147920;MIM #300867 | KMT2D; KDM6A | 12q13 Xp.11 | Dominant | Characteristic facial features – Eversion of lower lateral eyelid, arched eyebrows, depressed nasal tip, and prominent ears; fetal finger pads; short stature; skeletal abnormalities; cardiac defects; intellectual disability |
Sotos[3] MIM #117550 | NSD1 | 5q35 | Dominant | Prenatal and postnatal overgrowth, frontal bossing, intellectual disability |
Turner[4] | KDM6A? (in association with monosomy X) | X | Sporadic | Short stature, premature ovarian failure, congenital heart defects, kidney abnormalities, autoimmune thyroiditis |
Hyperinsulinism with hypopituitarism[5] | FOXA2 | 20p11 | Dominant | Hypopituitarism, dysmorphic facial features, hypoplastic pituitary gland and stalk |
Hyperinsulinism with polycystic kidneys[6] | PMM2 | 16p13 | Recessive* | Polycystic kidney disease, liver cysts |
Tyrosinemia type 1[7] MIM #276700 | FAH | 15q25 | Recessive | Liver dysfunction, renal tubular dysfunction, rickets, growth failure |
Usher syndrome type IC[8] MIM #276904 | ABCC8; KCNJ11¶ | 11p15 | Recessive | Sensorineural deafness, vestibular hypofunction, retinitis pigmentosa, enteropathy |
Rubinstein-Taybi[9] MIM #180849;MIM# 613684 | CREBBP; EP300 | 22q13 16p13 | Dominant | Distal limb abnormalities, short stature, intellectual disabilities |
Congenital disorders of glycosylation | ||||
Phosphomannomutase 2 deficiency[10] MIM #212065 | PMM2 | 16p13 | Recessive | Failure to thrive, developmental delay, epilepsy, ataxia, hepatopathy |
Mannosephosphate isomerase deficiency[11] MIM #602579 | MPI | 15q24 | Recessive | Failure to thrive, protein-losing enteropathy, hepatopathy |
Phosphoglucomutase 1 deficiency[12] MIM #614921 | PGM1 | 1p31 | Recessive | Cleft lip, bifid uvula, hepatopathy, short stature |
* Promotor mutation (c.-167G>T) either homozygous or in trans with coding mutation.
¶ Contiguous gene deletion of 11p14-15, which includes part of ABCC8 and encompassing the Usher gene locus (USH1C).
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