APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs: APLCC
Number of Symptoms 44
OrphanetNr:
OMIM Id: 300887
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0000331) Short chin 33 / 7739
3
(HPO:0000348) High forehead 157 / 7739
4
(HPO:0000343) Long philtrum 262 / 7739
5
(HPO:0002553) Highly arched eyebrow 92 / 7739
6
(HPO:0000252) Microcephaly 832 / 7739
7
(HPO:0003196) Short nose 264 / 7739
8
(HPO:0000543) Optic disc pallor 67 / 7739
9
(HPO:0000545) Myopia 286 / 7739
10
(HPO:0000505) Visual impairment 297 / 7739
11
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
12
(HPO:0000358) Posteriorly rotated ears 163 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0001270) Motor delay 322 / 7739
17
(HPO:0006610) Wide intermamillary distance 46 / 7739
18
(HPO:0001852) Sandal gap 63 / 7739
19
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
20
(HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
21
(HPO:0004322) Short stature 1232 / 7739
22
(HPO:0001631) Atria septal defect 274 / 7739
23
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
24
(HPO:0001714) Ventricular hypertrophy 20 / 7739
25
(HPO:0001636) Tetralogy of Fallot 104 / 7739
26
(HPO:0002092) Pulmonary hypertension 109 / 7739
27
(OMIM) Asymmetric thorax (1/4 patients) 1 / 7739
28
(OMIM) Reticulolinear skin defects over face and neck (4/4 patients) 1 / 7739
29
(OMIM) Ureteral duplication, right-sided (1/4 patients) 1 / 7739
30
(OMIM) Erythroderma, patchy, on cheeks and chin (1/4 patients) 1 / 7739
31
(OMIM) Altered visual evoked potentials (1/4 patients) 1 / 7739
32
(HPO:0012448) Delayed myelination 51 / 7739
33
(OMIM) Regeneration of dermis in perilesional skin (1/4 patients) 1 / 7739
34
(OMIM) No intraepidermal or subepidermal cleavage in perilesional skin (1/4 patients) 1 / 7739
35
(OMIM) Renal agenesis, left-sided (1/4 patients) 1 / 7739
36
(OMIM) Limited eyelid closure (1/4 patients) 1 / 7739
37
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
38
(OMIM) Mild perivascular lymphocyte infiltrate in perilesional skin (1/4 patients) 1 / 7739
39
(OMIM) Asymmetric face 5 / 7739
40
(OMIM) Cytoplasmic bodies, 80 nm to 100 nm, with electron-dense membrane, within keratinocytes of perilesional skin (1/4 patients) 1 / 7739
41
(OMIM) Uninvolved skin unremarkable (1/4 patients) 1 / 7739
42
(OMIM) Diaphragmatic hernia, right-sided (1/4 patients) 1 / 7739
43
(OMIM) Reticulolinear skin defects, congenital (4/4 patients) 1 / 7739
44
(OMIM) Long upslanting palpebral fissures (1/4 patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zvulunov et al. (1998) described a female infant, born of unrelated Jewish parents, who at birth had extensive areas of denuded skin over the neck and face with reepithelialization already apparent in some of the lesions. In addition, ...
Molecular genetics OMIM In 4 female patients, including the patient originally reported by Zvulunov et al. (1998), with linear skin defects reminiscent of those associated with mutation or deletions at chromosome Xp22 (MCOPS7; 309801) but in whom FISH studies or array ...