Combined immunodeficiency with facio-oculo-skeletal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY
Roifman-Chitayat syndrome
Number of Symptoms 30
OrphanetNr: 221139
OMIM Id: 613328
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000086) Ectopic kidney 29 / 7739
2
 (HPO:0004736) Crossed fused renal ectopia 5 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0010282) Thin lower lip vermilion 1 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0001999) Abnormal facial shape 169 / 7739
7
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
8
 (HPO:0000316) Hypertelorism 644 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0007678) Lacrimal duct stenosis 8 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
13
 (HPO:0001369) Arthritis 44 / 7739
14
 (HPO:0010743) Short metatarsal 56 / 7739
15
 (HPO:0010049) Short metacarpal 99 / 7739
16
 (HPO:0000938) Osteopenia 138 / 7739
17
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
18
 (HPO:0001537) Umbilical hernia 206 / 7739
19
 (HPO:0002090) Pneumonia 59 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Esophageal dyskinesia 1 / 7739
22
 (OMIM) Aberrant subclavian artery 2 / 7739
23
 (OMIM) Puffy and droopy eyelids 1 / 7739
24
 (OMIM) Low IgG with antibody deficiency 1 / 7739
25
 (OMIM) Repeated invasive infections 1 / 7739
26
 (OMIM) Square chin 1 / 7739
27
 (OMIM) Low T-cell function 1 / 7739
28
 (OMIM) Normal or elevated lymphocytes 1 / 7739
29
 (OMIM) Thin optic nerves 2 / 7739
30
 (HPO:0002119) Ventriculomegaly 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Roifman and Chitayat (2009) reported 2 sisters, born to second-cousin parents, with a syndrome characterized by combined immunodeficiency, facial dysmorphism, optic atrophy, myoclonic seizures, skeletal anomalies, and developmental delay. Both patients had repeated bacterial, viral, and fungal infections ...