187:) 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. There is a compound that is a topical liquid that can calm lesions down on older adults and make them go away on younger children. The mixture was made by Dr. Amy Paller at Children's Hospital. It is mixed as follows: to make 250 ml: Grind up lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz
47:
75:
158:, and stop mutations, all resulting in loss of function of NSDHL. The type of mutation is not believed to be the underlining reason for clinical variations in the extent of involvement but rather the differences in the pattern of X inactivation. Although researchers suspect that low levels of cholesterol and/or an accumulation of other substances are responsible for disrupting the growth and development of many body parts, the precise rationale for the
244:
The earliest recorded case of CHILD syndrome was in 1903. Otto Sachs was accredited for first describing the clinical characteristics of the syndrome in an 8-year-old girl. The nearest proceeding news on the topic was a report in 1948 by
Zellweger and Uelinger, who reported a patient with "half-sided
1326:
1267:
170:
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
149:
and on the surface of intracellular lipid storage droplets. A shortage of the enzyme may allow potentially toxic byproducts of cholesterol production to accumulate in the body's tissues. Mutations of the gene have been reported in all three types:
1099:
245:
osteochondrodermatitis and nevus ichthyosiformis." The first case of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy was recently reported in 2010 by Knape et al.
91:") is a genetic disorder with onset at birth seen almost exclusively in females. The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the
1305:
1257:
1252:
110:
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.
1272:
1163:
1092:
208:
CHILD syndrome is not fatal unless there are problems with the internal organs. The most common causes of early death in people with the syndrome are cardiovascular malformations. However,
228:
CHILD syndrome occurs almost exclusively in females. Only 2 known cases have been reported in males, one having a normal 46,XY karyotype, suggesting an early postzygotic somatic mutation.
236:
Because CHILD syndrome is a congenital disorder, the symptoms may be present at birth or may develop during the first few weeks of life and continue for the lifetime of the patient.
1085:
1425:
183:
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 (
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634:
670:
481:
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530:
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17:
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896:
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615:
383:
1420:
815:
550:
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413:
315:
Happle R, Koch H, Lenz W (June 1980). "The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects".
605:
1173:
891:
175:
of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help detect problems of the internal organs.
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820:
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357:
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1310:
601:
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504:
117:), and flaky scales (ichthyosis) on the side of the body that is affected. Hair loss on the same side may also be possible.
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gene. This gene encodes for the enzyme 3beta-hydroxy sterol dehydrogenase which catalyzes a step in the
121:
46:
1360:
1158:
657:
583:
555:
74:
1385:
854:
565:
1133:
1116:
1027:
727:
625:
340:
113:
I - ichthyosiform erythroderma—at birth or shortly after birth, there are red, inflamed patches (
200:
CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature.
919:
610:
593:
435:
332:
298:
155:
134:
63:
55:
455:
GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome
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906:
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68:
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706:
512:
372:
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800:
732:
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LD - limb defects—fingers on the hand or toes on the foot of the affected side may be
1409:
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805:
765:
693:
680:
578:
573:
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344:
652:
114:
18:
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
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1191:
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490:
142:
454:
440:
159:
92:
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377:
145:
biosynthetic pathway. Locations of this enzyme include the membranes of the
384:"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects"
336:
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1297:
1243:
151:
85:
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
405:
1206:
328:
459:
213:
938:
257:
competes in classification LW9-1 at the Sochi Winter
Paralympics.
172:
138:
934:
775:
418:
217:
184:
1081:
1004:
502:
463:
106:
The acronym "CHILD" stands for the symptoms of the syndrome:
1278:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
220:, and other visceral defects also contribute significantly.
95:
with minimal linear or segmental contralateral involvement.
1164:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
124:. An arm or leg may also be shortened or even missing.
395:
1378:
1350:
1295:
1286:
1214:
1205:
1147:
1115:
955:
933:
905:
868:
834:
745:
624:
592:
564:
511:
399:
62:
39:
137:fashion and is associated with a mutation of the
681:Danon disease/glycogen storage disease Type IIb
1093:
786:Color blindness (red and green, but not blue)
771:Alpha-thalassemia mental retardation syndrome
475:
295:Fitzpatrick's Dermatology in General Medicine
8:
1426:Cholesterol and steroid metabolism disorders
671:Glucose-6-phosphate dehydrogenase deficiency
1332:17β-Hydroxysteroid dehydrogenase deficiency
1327:3β-Hydroxysteroid dehydrogenase deficiency
1292:
1211:
1100:
1086:
1078:
1001:
499:
482:
468:
460:
396:
162:of the syndrome has yet to be determined.
73:
45:
36:
531:X-linked severe combined immunodeficiency
1341:Pseudovaginal perineoscrotal hypospadias
1236:Glucocorticoid remediable aldosteronism
925:X-linked nephrogenic diabetes insipidus
850:Hypohidrotic ectodermal dysplasia (EDA)
289:
287:
283:
860:X-linked endothelial corneal dystrophy
816:Charcot–Marie–Tooth disease (CMTX2-3)
640:Ornithine transcarbamylase deficiency
616:X-linked adrenal hypoplasia congenita
7:
551:X-linked lymphoproliferative disease
521:Chronic granulomatous disease (CYBB)
98:The acronym was introduced in 1980.
1109:Inborn errors of steroid metabolism
897:Emery–Dreifuss muscular dystrophy 1
606:Spinal and bulbar muscular atrophy
133:CHILD syndrome is inherited in an
54:This condition is inherited in an
25:
676:Pyruvate dehydrogenase deficiency
756:X-linked intellectual disability
602:Androgen insensitivity syndrome
253:Paralympic skier and medallist
978:Simpson–Golabi–Behmel syndrome
1:
947:AMELX Amelogenesis imperfecta
887:Centronuclear myopathy (MTM1)
584:X-linked sideroblastic anemia
1139:Mevalonate kinase deficiency
973:Smith–Fineman–Myers syndrome
821:Pelizaeus–Merzbacher disease
715:Purine–pyrimidine metabolism
272:List of cutaneous conditions
1421:X-linked dominant disorders
1063:Craniofrontonasal dysplasia
988:Nasodigitoacoustic syndrome
536:X-linked agammaglobulinemia
1447:
1306:17α-Hydroxylase deficiency
1184:Smith–Lemli–Opitz syndrome
1174:Conradi–Hünermann syndrome
1058:Orofaciodigital syndrome 1
892:Conradi–Hünermann syndrome
645:Oculocerebrorenal syndrome
297:. (6th ed.). McGraw-Hill.
293:Freedberg, et al. (2003).
26:
1366:Aromatase excess syndrome
1337:5α-reductase 2 deficiency
1018:X-linked hypophosphatemia
1013:
1000:
878:Becker muscular dystrophy
541:Hyper-IgM syndrome type 1
498:
53:
44:
1127:HMG-CoA lyase deficiency
983:Mohr–Tranebjærg syndrome
526:Wiskott–Aldrich syndrome
267:Epidermal nevus syndrome
1023:Focal dermal hypoplasia
737:Occipital horn syndrome
666:Carbohydrate metabolism
1391:Antley–Bixler syndrome
1311:17,20-Lyase deficiency
1038:Incontinentia pigmenti
845:Dyskeratosis congenita
689:Lipid storage disorder
611:KAL1 Kallmann syndrome
210:central nervous system
29:Child (disambiguation)
761:Coffin–Lowry syndrome
702:Mucopolysaccharidosis
147:endoplasmic reticulum
1361:Aromatase deficiency
1268:CAH 3β-dehydrogenase
1159:7-Dehydrocholesterol
1053:Lujan–Fryns syndrome
720:Lesch–Nyhan syndrome
658:Adrenoleukodystrophy
556:Properdin deficiency
27:For other uses, see
1386:X-linked ichthyosis
1258:CAH 11β-hydroxylase
1253:CAH 17α-hydroxylase
855:X-linked ichthyosis
204:Mortality/morbidity
1273:CAH 21-hydroxylase
1134:Hyper-IgD syndrome
1028:Fragile X syndrome
838:and related tissue
505:X-linked recessive
329:10.1007/bf00442399
102:Symptoms and signs
1403:
1402:
1399:
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1374:
1373:
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1007:X-linked dominant
996:
995:
956:No primary system
450:
449:
135:X-linked dominant
82:
81:
56:X-linked dominant
34:Medical condition
16:(Redirected from
1438:
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1088:
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1033:Aicardi syndrome
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255:Stephanie Jallen
87:(also known as "
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69:Medical genetics
49:
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21:
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1197:Desmosterolosis
1179:Lathosterolosis
1143:
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1111:
1106:
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1067:
1009:
992:
968:McLeod syndrome
951:
929:
915:Alport syndrome
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791:Ocular albinism
741:
707:Hunter syndrome
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366:Further reading
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317:Eur. J. Pediatr
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129:Pathophysiology
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5:
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1431:Rare syndromes
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1416:Genodermatoses
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1216:Corticosteroid
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1169:CHILD syndrome
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1048:CHILD syndrome
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1005:
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963:Barth syndrome
959:
957:
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943:
941:
931:
930:
928:
927:
922:
920:Dent's disease
917:
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801:Norrie disease
798:
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783:Eye disorders:
779:
778:
773:
768:
763:
751:
749:
747:Nervous system
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733:Menkes disease
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400:Classification
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392:External links
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373:CHILD Syndrome
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89:CHILD syndrome
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40:CHILD syndrome
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1043:Rett syndrome
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870:Neuromuscular
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843:
842:
840:
837:
833:
827:
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819:
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814:
811:
810:
807:
806:Choroideremia
804:
802:
799:
796:
792:
789:
787:
784:
781:
780:
777:
774:
772:
769:
767:
766:MASA syndrome
764:
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750:
748:
744:
738:
734:
731:
729:
725:
724:
721:
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712:
711:
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705:
703:
699:
698:
695:
694:Fabry disease
691:
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672:
669:
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614:
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597:
595:
591:
585:
582:
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579:Haemophilia B
577:
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574:Haemophilia A
572:
571:
569:
567:
563:
557:
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303:0-07-138076-0
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30:
19:
1316:Cytochrome b
1264:
1242:
1229:
1190:
1168:
1157:
1047:
812:
782:
754:
726:
713:
700:
687:
664:
653:Dyslipidemia
651:
633:
434:
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386:. July 2008.
371:
353:
323:(1): 27–33.
320:
316:
310:
294:
252:
243:
235:
227:
212:, skeletal,
207:
199:
191:Epidemiology
182:
169:
132:
115:erythroderma
105:
97:
88:
84:
83:
1288:Sex steroid
1231:aldosterone
1219:(including
1192:desmosterol
1150:cholesterol
566:Hematologic
143:cholesterol
1410:Categories
1320:deficiency
1117:Mevalonate
635:Amino acid
436:DiseasesDB
278:References
160:laterality
93:ichthyosis
1353:estrogens
1298:androgens
1248:cortisone
626:Metabolic
594:Endocrine
493:disorders
378:eMedicine
196:Frequency
179:Treatment
166:Diagnosis
64:Specialty
1244:cortisol
1207:Steroids
907:Urologic
882:Duchenne
491:X-linked
345:30798290
261:See also
156:nonsense
152:missense
1119:pathway
728:Mineral
430:C562515
337:7408908
240:History
122:missing
58:manner.
813:Other:
513:Immune
419:308050
343:
335:
301:
224:Gender
214:kidney
71:
1379:Other
1265:both:
1194:path:
1161:path:
939:tooth
826:SMAX2
441:34609
341:S2CID
173:X-ray
139:NSDHL
935:Bone
836:Skin
776:PHF8
546:IPEX
425:MeSH
414:OMIM
333:PMID
299:ISBN
218:lung
185:urea
1351:To
1296:To
1221:CAH
1148:To
376:at
325:doi
321:134
232:Age
1412::
692::
439::
428::
417::
339:.
331:.
319:.
286:^
216:,
154:,
1318:5
1250::
1246:/
1233::
1223:)
1101:e
1094:t
1087:v
937:/
880:/
797:)
795:1
793:(
758::
735:/
730::
717::
704::
668::
655::
637::
604:/
483:e
476:t
469:v
406:D
347:.
327::
305:.
31:.
20:)
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