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Copyright V. Ventruto / A. Di Luccio Genus database 23720 CHILD syndrome Eponyms: Inheritance: congenital hemidysplasiaichthyosiform naevus-limb defects limb reduction-ichthyosis Shear-Nyhan syndrome unilateral hypomelia-skin hypoplasia-cardiac defect supposed X-linked dominant X-dominant lethal in male Semeiological Cardio-cutaneous-oto-skeletal disorder. Unilateral ichthyosiform erythroderma, involving trunk/limbs, sparing the face; ipsilateral limb anomalies, with/without ipsilateral visceral anomalies, transitory punctate cartilage Synthesis: calcification, deafness, other associated findings. Group Sub group Signs: AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital univentricular, common ventricular chamber, single ventricle DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, ipsilateral changes dermatitis erythroderma ichthyosiformis psoriasis keratinisation defects ichthyosis keratosis, hyperkeratosis, keratoderma, scaling cutis nail changes nails and/or toenails, dysplastic, brittle nails, onychodystrophy LABORATORY DATA chromosomal assignment chromosome X localization chromosome Xq28 localization gene, structural-functional anomalies NSDHL, gene chr.Xq28 MUSCULAR DISEASES muscular defects, distrectual hernia, inguinal hernia, umbilical, navel NEUROLOGICAL DISORDERS mental retardation mental retardation OROCRANIOFACIAL ANOMALIES external ear malformations ear, external canal atresia, stenosis facies, modified appearance facies, asymmetric, unilateral atrophy, hemifacial atrophy lip-palate, cleft lip and palate cleft, cheilognatopalatoschisis not including isolated palate cleft OTHERS CHILD syndrome Page 1 of 3 Copyright V. Ventruto / A. Di Luccio Genus database supergroups cardio-cutaneous-facio disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cutaneous-facio-oto-urological disorders oto-skeleto-urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes birth length, decreased; low birth length birth weight, low; foetal growth decreased, intrauterine growth retardation, intrauterine growth restriction, IUGR foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic SKELETAL DISORDERS epiphyseal changes epiphyseal stippling limb anomalies, limb defects ectromelia; limbs, mutilations lethality, in malformations, no chondrodystrophy, no chromosomopathies limbs, ipsilateral anomalies phocomelia ossification, changes bone age, accelerated, including: precocious calcification (calcinosis) of cartilages skull shape, changes plagiocephaly, skull asymmetry UROLOGICAL DISORDERS kidney, malformations hydronephrosis kidney, enlarged kidney, small, underdeveloped, including renal agenesis urinary tract-bladder, malformations urinary tract malformations, unspecified type Super group: cardio-cutaneous-facio disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cardio-neuro-oto disorders complex plurimalformations cutaneous-facio-oto-urological disorders oto-skeleto-urological disorders Super aggreg. DEAFNESS deafness, in syndromic association Aggregations: FOETAL CHANGES foetal changes, recognized by ultrasound techniques LETHALITY lethality in plurimalformations, not including chondrodystrophy or chromosomopathies OTHER craniofacial dysmorphism due to cranial changes, including microcephaly Differential diagnosis: CHILD syndrome 5155 CHIME syndrome 5490 chondrodysplasia punctata, X-linked dominant 28105 Ciske-Waggoner-Dowton syndrome Page 2 of 3 Copyright V. Ventruto / A. Di Luccio Genus database 13260 ILVEN syndrome 18300 linear sebaceous nevus syndrome 16293 mental retardation, X-linked and psoriasis Aggregation(s) [in differential diagnosis]: - lethality, in chomosomal disorders Bibliography CHILD syndrome OMIM ID: 308050 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 348-349 OMIM ID: 300275 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 262-263 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 183 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.3444,2007 Page 3 of 3
