176:) 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
36:
64:
147:, 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
233:
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
1315:
1256:
159:
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
138:
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:
1088:
234:
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.
80:") 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
1294:
1246:
1241:
99:
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.
1261:
1152:
1081:
197:
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,
217:
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.
225:
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.
1074:
1414:
172:
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 (
703:
1115:
1320:
759:
623:
659:
470:
1266:
519:
1224:
966:
814:
848:
885:
961:
628:
604:
372:
1409:
804:
539:
1172:
1097:
402:
304:
Happle R, Koch H, Lenz W (June 1980). "The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects".
594:
1162:
880:
164:
of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help detect problems of the internal organs.
838:
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291:
809:
744:
463:
346:
971:
1299:
590:
1209:
913:
493:
106:), and flaky scales (ichthyosis) on the side of the body that is affected. Hair loss on the same side may also be possible.
995:
509:
514:
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1127:
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524:
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654:
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735:
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17:
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690:
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gene. This gene encodes for the enzyme 3beta-hydroxy sterol dehydrogenase which catalyzes a step in the
110:
35:
1349:
1147:
646:
572:
544:
63:
1374:
843:
554:
1122:
1105:
1016:
716:
614:
329:
102:
I - ichthyosiform erythroderma—at birth or shortly after birth, there are red, inflamed patches (
189:
CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature.
908:
599:
582:
424:
321:
287:
144:
123:
52:
44:
444:
GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome
1021:
895:
313:
243:
57:
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903:
779:
774:
695:
501:
361:
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951:
824:
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721:
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LD - limb defects—fingers on the hand or toes on the foot of the affected side may be
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682:
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biosynthetic pathway. Locations of this enzyme include the membranes of the
373:"Congenital hemidysplasia with ichthyosiform erythroderma and limb defects"
325:
1341:
1286:
1232:
140:
74:
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
394:
1195:
317:
448:
202:
927:
246:
competes in classification LW9-1 at the Sochi Winter
Paralympics.
161:
127:
923:
764:
407:
206:
173:
1070:
993:
491:
452:
95:
The acronym "CHILD" stands for the symptoms of the syndrome:
1267:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
209:, and other visceral defects also contribute significantly.
84:
with minimal linear or segmental contralateral involvement.
1153:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
113:. An arm or leg may also be shortened or even missing.
384:
1367:
1339:
1284:
1275:
1203:
1194:
1136:
1104:
944:
922:
894:
857:
823:
734:
613:
581:
553:
500:
388:
51:
28:
126:fashion and is associated with a mutation of the
670:Danon disease/glycogen storage disease Type IIb
1082:
775:Color blindness (red and green, but not blue)
760:Alpha-thalassemia mental retardation syndrome
464:
284:Fitzpatrick's Dermatology in General Medicine
8:
1415:Cholesterol and steroid metabolism disorders
660:Glucose-6-phosphate dehydrogenase deficiency
1321:17β-Hydroxysteroid dehydrogenase deficiency
1316:3β-Hydroxysteroid dehydrogenase deficiency
1281:
1200:
1089:
1075:
1067:
990:
488:
471:
457:
449:
385:
151:of the syndrome has yet to be determined.
62:
34:
25:
520:X-linked severe combined immunodeficiency
1330:Pseudovaginal perineoscrotal hypospadias
1225:Glucocorticoid remediable aldosteronism
914:X-linked nephrogenic diabetes insipidus
839:Hypohidrotic ectodermal dysplasia (EDA)
278:
276:
272:
849:X-linked endothelial corneal dystrophy
805:Charcot–Marie–Tooth disease (CMTX2-3)
629:Ornithine transcarbamylase deficiency
605:X-linked adrenal hypoplasia congenita
7:
540:X-linked lymphoproliferative disease
510:Chronic granulomatous disease (CYBB)
87:The acronym was introduced in 1980.
1098:Inborn errors of steroid metabolism
886:Emery–Dreifuss muscular dystrophy 1
595:Spinal and bulbar muscular atrophy
122:CHILD syndrome is inherited in an
43:This condition is inherited in an
14:
665:Pyruvate dehydrogenase deficiency
745:X-linked intellectual disability
591:Androgen insensitivity syndrome
242:Paralympic skier and medallist
967:Simpson–Golabi–Behmel syndrome
1:
936:AMELX Amelogenesis imperfecta
876:Centronuclear myopathy (MTM1)
573:X-linked sideroblastic anemia
1128:Mevalonate kinase deficiency
962:Smith–Fineman–Myers syndrome
810:Pelizaeus–Merzbacher disease
704:Purine–pyrimidine metabolism
261:List of cutaneous conditions
1410:X-linked dominant disorders
1052:Craniofrontonasal dysplasia
977:Nasodigitoacoustic syndrome
525:X-linked agammaglobulinemia
1436:
1295:17α-Hydroxylase deficiency
1173:Smith–Lemli–Opitz syndrome
1163:Conradi–Hünermann syndrome
1047:Orofaciodigital syndrome 1
881:Conradi–Hünermann syndrome
634:Oculocerebrorenal syndrome
286:. (6th ed.). McGraw-Hill.
282:Freedberg, et al. (2003).
15:
1355:Aromatase excess syndrome
1326:5α-reductase 2 deficiency
1007:X-linked hypophosphatemia
1002:
989:
867:Becker muscular dystrophy
530:Hyper-IgM syndrome type 1
487:
42:
33:
1116:HMG-CoA lyase deficiency
972:Mohr–Tranebjærg syndrome
515:Wiskott–Aldrich syndrome
256:Epidermal nevus syndrome
1012:Focal dermal hypoplasia
726:Occipital horn syndrome
655:Carbohydrate metabolism
1380:Antley–Bixler syndrome
1300:17,20-Lyase deficiency
1027:Incontinentia pigmenti
834:Dyskeratosis congenita
678:Lipid storage disorder
600:KAL1 Kallmann syndrome
199:central nervous system
18:Child (disambiguation)
750:Coffin–Lowry syndrome
691:Mucopolysaccharidosis
136:endoplasmic reticulum
1350:Aromatase deficiency
1257:CAH 3β-dehydrogenase
1148:7-Dehydrocholesterol
1042:Lujan–Fryns syndrome
709:Lesch–Nyhan syndrome
647:Adrenoleukodystrophy
545:Properdin deficiency
16:For other uses, see
1375:X-linked ichthyosis
1247:CAH 11β-hydroxylase
1242:CAH 17α-hydroxylase
844:X-linked ichthyosis
193:Mortality/morbidity
1262:CAH 21-hydroxylase
1123:Hyper-IgD syndrome
1017:Fragile X syndrome
827:and related tissue
494:X-linked recessive
318:10.1007/bf00442399
91:Symptoms and signs
1392:
1391:
1388:
1387:
1363:
1362:
1064:
1063:
1060:
1059:
996:X-linked dominant
985:
984:
945:No primary system
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124:X-linked dominant
71:
70:
45:X-linked dominant
23:Medical condition
1427:
1282:
1201:
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1022:Aicardi syndrome
991:
489:
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244:Stephanie Jallen
76:(also known as "
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58:Medical genetics
38:
26:
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1395:
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1186:Desmosterolosis
1168:Lathosterolosis
1132:
1107:
1100:
1095:
1065:
1056:
998:
981:
957:McLeod syndrome
940:
918:
904:Alport syndrome
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853:
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780:Ocular albinism
730:
696:Hunter syndrome
609:
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355:Further reading
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306:Eur. J. Pediatr
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118:Pathophysiology
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5:
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1420:Rare syndromes
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1205:Corticosteroid
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1158:CHILD syndrome
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1037:CHILD syndrome
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987:
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952:Barth syndrome
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946:
942:
941:
939:
938:
932:
930:
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919:
917:
916:
911:
909:Dent's disease
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790:Norrie disease
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772:Eye disorders:
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740:
738:
736:Nervous system
732:
731:
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722:Menkes disease
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389:Classification
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381:External links
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362:CHILD Syndrome
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238:Notable people
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1038:
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1032:Rett syndrome
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859:Neuromuscular
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831:
829:
826:
822:
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799:
796:
795:Choroideremia
793:
791:
788:
785:
781:
778:
776:
773:
770:
769:
766:
763:
761:
758:
756:
755:MASA syndrome
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737:
733:
727:
723:
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718:
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683:Fabry disease
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584:
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571:
569:
568:Haemophilia B
566:
564:
563:Haemophilia A
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27:
19:
1305:Cytochrome b
1253:
1231:
1218:
1179:
1157:
1146:
1036:
801:
771:
743:
715:
702:
689:
676:
653:
642:Dyslipidemia
640:
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375:. July 2008.
360:
342:
312:(1): 27–33.
309:
305:
299:
283:
241:
232:
224:
216:
201:, skeletal,
196:
188:
180:Epidemiology
171:
158:
121:
104:erythroderma
94:
86:
77:
73:
72:
1277:Sex steroid
1220:aldosterone
1208:(including
1181:desmosterol
1139:cholesterol
555:Hematologic
132:cholesterol
1399:Categories
1309:deficiency
1106:Mevalonate
624:Amino acid
425:DiseasesDB
267:References
149:laterality
82:ichthyosis
1342:estrogens
1287:androgens
1237:cortisone
615:Metabolic
583:Endocrine
482:disorders
367:eMedicine
185:Frequency
168:Treatment
155:Diagnosis
53:Specialty
1233:cortisol
1196:Steroids
896:Urologic
871:Duchenne
480:X-linked
334:30798290
250:See also
145:nonsense
141:missense
1108:pathway
717:Mineral
419:C562515
326:7408908
229:History
111:missing
47:manner.
802:Other:
502:Immune
408:308050
332:
324:
290:
213:Gender
203:kidney
60:
1368:Other
1254:both:
1183:path:
1150:path:
928:tooth
815:SMAX2
430:34609
330:S2CID
162:X-ray
128:NSDHL
924:Bone
825:Skin
765:PHF8
535:IPEX
414:MeSH
403:OMIM
322:PMID
288:ISBN
207:lung
174:urea
1340:To
1285:To
1210:CAH
1137:To
365:at
314:doi
310:134
221:Age
1401::
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428::
417::
406::
328:.
320:.
308:.
275:^
205:,
143:,
1307:5
1239::
1235:/
1222::
1212:)
1090:e
1083:t
1076:v
926:/
869:/
786:)
784:1
782:(
747::
724:/
719::
706::
693::
657::
644::
626::
593:/
472:e
465:t
458:v
395:D
336:.
316::
294:.
20:.
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