PARC syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: POIKILODERMA, ALOPECIA, RETROGNATHISM, AND CLEFT PALATE
Poikiloderma - alopecia - retrognathism - cleft palate
Number of Symptoms 16
OrphanetNr: 2825
OMIM Id: 600331
ICD-10: Q87.8
UMLs: C1838256
MeSH: C537174
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002223) Absent eyebrow 1/1 [HPO:probinson] 21 / 7739
2
 (HPO:0000561) Absent eyelashes 1/1 [HPO:probinson] 18 / 7739
3
 (HPO:0000308) Microretrognathia 1/1 [HPO:probinson] 78 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
5
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
6
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
7
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
 (HPO:0000175) Cleft palate 1/1 [HPO:probinson] 349 / 7739
9
 (HPO:0000278) Retrognathia 100 / 7739
10
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
11
 (HPO:0001596) Alopecia Very frequent [Orphanet] 1/1 [HPO:probinson] 162 / 7739
12
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
13
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
14
 (HPO:0001029) Poikiloderma Very frequent [Orphanet] 1/1 [HPO:probinson] 23 / 7739
15
 (OMIM) Absent eyebrows and eyelashes 2 / 7739
16
 (OMIM) Absent lanugo 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: