CHILD syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
CHILD SYNDROME
CHILD nevus
Congenital hemidysplasia with ichthyosiform nevus and limbs defects
Number of Symptoms 95
OrphanetNr: 139
OMIM Id: 308050
ICD-10: Q87.8
UMLs: C0265267
MeSH:
MedDRA:
Snomed: 17608003

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: X-linked dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Rare nevus
 -Rare oncologic disease
 -Rare skin disease
Sterol biosynthesis disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked ichthyosis syndrome
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] occasional [HPO] 10710233 IBIS 127 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
4
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
5
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
6
 (HPO:0000204) Cleft upper lip 193 / 7739
7
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
8
 (HPO:0000347) Micrognathia rare [HPO] 426 / 7739
9
 (HPO:0000365) Hearing impairment Occasional [Orphanet] rare [HPO] 539 / 7739
10
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
11
 (HPO:0001291) Abnormality of the cranial nerves Occasional [Orphanet] 27 / 7739
12
 (HPO:0001256) Intellectual disability, mild 141 / 7739
13
 (HPO:0000820) Abnormality of the thyroid gland Very frequent [Orphanet] 19 / 7739
14
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
15
 (HPO:0005990) Thyroid hypoplasia rare [HPO] 21 / 7739
16
 (HPO:0000835) Adrenal hypoplasia rare [HPO] 23 / 7739
17
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
18
 (HPO:0000773) Short ribs occasional [HPO] 10710233 IBIS 70 / 7739
19
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
20
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Very frequent [Orphanet] 7 / 7739
21
 (HPO:0009751) Aplasia of the pectoralis major muscle Very frequent [Orphanet] 8 / 7739
22
 (HPO:0001371) Flexion contracture occasional [HPO] 10710233 IBIS 220 / 7739
23
 (HPO:0008417) Vertebral hypoplasia occasional [HPO] 10710233 IBIS 6 / 7739
24
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
25
 (HPO:0009815) Aplasia/hypoplasia of the extremities hallmark [HPO] 12668600 IBIS 6 / 7739
26
 (HPO:0001374) Congenital hip dislocation occasional [HPO] 10710233 IBIS 51 / 7739
27
 (HPO:0000882) Hypoplastic scapulae occasional [HPO] 28 / 7739
28
 (HPO:0002435) Meningocele Occasional [Orphanet] 23 / 7739
29
 (HPO:0000894) Short clavicles occasional [HPO] 10710233 IBIS 30 / 7739
30
 (HPO:0002650) Scoliosis occasional [HPO] 10710233 IBIS 705 / 7739
31
 (HPO:0008839) Hypoplastic pelvis occasional [HPO] 18 / 7739
32
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
33
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
34
 (HPO:0010655) Epiphyseal stippling hallmark [HPO] 12668600 IBIS 32 / 7739
35
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
36
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
37
 (HPO:0001537) Umbilical hernia 206 / 7739
38
 (HPO:0004322) Short stature occasional [HPO] 12668600 IBIS 1232 / 7739
39
 (HPO:0008883) Mild intrauterine growth retardation 2 / 7739
40
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
41
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
42
 (HPO:0007431) Congenital ichthyosiform erythroderma obligate [HPO] 12668600 IBIS 17 / 7739
43
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
44
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] common [HPO] 10710233 IBIS 216 / 7739
45
 (HPO:0001036) Parakeratosis common [HPO] 10710233 IBIS 12 / 7739
46
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
47
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
48
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] common [HPO] 12668600 IBIS 115 / 7739
49
 (HPO:0001806) Onycholysis 20 / 7739
50
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
51
 (HPO:0002225) Sparse pubic hair Occasional [Orphanet] 76 / 7739
52
 (HPO:0001596) Alopecia Occasional [Orphanet] occasional [HPO] 12668600 IBIS 162 / 7739
53
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
54
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
55
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
56
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
57
 (HPO:0004383) Hypoplastic left heart Very frequent [Orphanet] 29 / 7739
58
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
59
 (HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
60
 (HPO:0001750) Single ventricle 3 / 7739
61
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
62
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
63
 (HPO:0003462) Elevated 8-dehydrocholesterol occasional [HPO] 10710233 IBIS 2 / 7739
64
 (HPO:0003465) Elevated 8(9)-cholestenol occasional [HPO] 10710233 IBIS 2 / 7739
65
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
66
 (HPO:0002089) Pulmonary hypoplasia occasional [HPO] 12668600 IBIS 80 / 7739
67
 (HPO:0003394) Muscle cramps Very frequent [Orphanet] 106 / 7739
68
 (HPO:0030680) Abnormality of cardiovascular system morphology occasional [HPO] 355 / 7739
69
 (OMIM) Knee webbing 1 / 7739
70
 (OMIM) Ipsilateral adrenal gland hypoplasia 1 / 7739
71
 (OMIM) Unilateral clavicular, scapular, rib hypoplasia 1 / 7739
72
 (OMIM) Ipsilateral cranial nerve hypoplasia 1 / 7739
73
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
74
 (OMIM) Ipsilateral mandibular hypoplasia 1 / 7739
75
 (OMIM) Unilateral erythema and scaling (present at birth or soon after birth, face is spared) 1 / 7739
76
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
77
 (OMIM) Single coronary ostium 1 / 7739
78
 (OMIM) Ipsilateral renal agenesis 1 / 7739
79
 (OMIM) Ipsilateral brain hypoplasia 1 / 7739
80
 (OMIM) Ipsilateral fallopian tube hypoplasia 1 / 7739
81
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
82
 (OMIM) Unilateral pelvic hypoplasia 1 / 7739
83
 (OMIM) Ipsilateral epiphyseal stippling 1 / 7739
84
 (OMIM) Sharp midline demarcation 1 / 7739
85
 (OMIM) Ipsilateral thyroid gland hypoplasia 1 / 7739
86
 (OMIM) Elbow webbing 1 / 7739
87
 (OMIM) Destruction of nails 1 / 7739
88
 (HPO:0002977) Aplasia/Hypoplasia involving the central nervous system rare [HPO] 4 / 7739
89
 (HPO:0003826) Stillbirth 99% [HPO] 40 / 7739
90
 (OMIM) Unilateral alopecia 1 / 7739
91
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
92
 (OMIM) Ipsilateral lung hypoplasia 1 / 7739
93
 (OMIM) Ipsilateral ovarian hypoplasia 1 / 7739
94
 (OMIM) Unilateral hypomelia (digital hypoplasia to complete limb absence) 1 / 7739
95
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980).

CK syndrome (300275), an X-linked ...
Clinical Description OMIM Falek et al. (1968) described sibs with this combination, and other familial cases are known. Tang and McCreadie (1974) described in brief the autopsy findings in a case. Many organs were asymmetric with hypoplasia on the side of ...
Molecular genetics OMIM Konig et al. (2000) analyzed 6 patients with CHILD syndrome for mutations in the NSDHL gene at Xq28 and in the EBP gene, which functions downstream of NSDHL in a later step of cholesterol biosynthesis. Four of the ...