CHILD syndrome

CHILD syndrome
Classification and external resources
OMIM	308050
DiseasesDB	34609

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.^[1]^:485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.^[1]^:501

The acronym was introduced in 1980.^[2]

It has been associated with NSDHL.^[3]

It is inherited in an X-linked dominant fashion.^[4]^[5]^:565

1 Symptoms
2 Diagnosis
3 Treatment
4 See also
5 References

Symptoms

The acronym CHILD stands for the symptoms of the syndrome:

CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected.
I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red patches on the side of the body that is affected. Hair loss on the same side may also be possible.
LD - limb defects—Fingers on the hand or toes on the foot of the affected side may be missing. An arm or leg may also be shortened or even missing.

Diagnosis

The symptoms would appear at birth or shortly after birth. The combination of physical symptoms on the child would suggest they have CHILD syndrome. A skin sample examined under a microscope would suggest the characteristics of the syndrome and an X-Ray of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help detect problems of the internal organs.

Treatment

There is currently no treatment for CHILD syndrome so any treatment would target the symptoms currently present. Emoillents like Lac-Hydran (ammonium lactate) and Ureaphil (urea) are used to treat scaly patches on the skin. A pediatric orthopedic surgeon can evaluate any underdevelopment in the bones and treat them if necessary. CHILD syndrome is not fatal unless there are problems with the internal organs.

References

^ ^a ^b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
^ Happle R, Koch H, Lenz W (June 1980). "The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects". Eur. J. Pediatr. 134 (1): 27–33. PMID 7408908.
^ König A, Happle R, Bornholdt D, Engel H, Grzeschik KH (February 2000). "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am. J. Med. Genet. 90 (4): 339–46. doi:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. PMID 10710235.
^ "CHILD syndrome - Genetics Home Reference". http://ghr.nlm.nih.gov/condition=congenitalhemidysplasiawithichthyosiformerythrodermaandlimbdefects.
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.

Sex linkage: X-linked disorders

X-linked recessive

Immune	Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine	Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch–Nyhan syndrome mineral: Menkes disease/Occipital horn syndrome

Nervous system	X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic	Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth	AMELX Amelogenesis imperfecta

No primary system	Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

Inborn error of steroid metabolism

Mevalonate pathway

HMG-CoA lyase deficiency

Hyper-IgD syndrome · Mevalonate kinase deficiency

To cholesterol

7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia · CHILD syndrome · Conradi-Hünermann syndrome · Lathosterolosis · Smith-Lemli-Opitz syndrome

desmosterol path: Desmosterolosis

Steroids

Corticosteroid
(including CAH)

aldosterone: Glucocorticoid remediable aldosteronism

cortisol/cortisone: CAH 17α hydroxylase · CAH 11β hydroxylase

both: CAH 3β dehydrogenase · CAH 21α hydroxylase · Apparent mineralocorticoid excess syndrome/11β dehydrogenase

Sex steroid

To androgens	17-beta-hydroxysteroid dehydrogenase deficiency · 5-alpha-reductase deficiency (Pseudovaginal perineoscrotal hypospadias)

To estrogens	Aromatase deficiency

Other

X-linked ichthyosis · Antley-Bixler syndrome

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

M: END

anat/phys/devp/horm

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

CHILD syndrome

Contents

Symptoms

Diagnosis

Treatment

See also

References