MCID: RFM002
MIFTS: 19

Roifman-Chitayat Syndrome

Categories: Fetal diseases, Blood diseases, Rare diseases

Aliases & Classifications for Roifman-Chitayat Syndrome

MalaCards integrated aliases for Roifman-Chitayat Syndrome:

Name: Roifman-Chitayat Syndrome 57 59 13 73
Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, and Developmental Delay 57
Combined Immunodeficiency with Faciooculoskeletal Anomalies 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family with 2 sisters have been reported (as of march 2010)


HPO:

32
roifman-chitayat syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Roifman-Chitayat Syndrome

MalaCards based summary : Roifman-Chitayat Syndrome, also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, is related to combined immunodeficiency, x-linked, and has symptoms including myoclonic seizures An important gene associated with Roifman-Chitayat Syndrome is RCHTS (Roifman-Chitayat Syndrome). Affiliated tissues include kidney and t cells, and related phenotypes are hypertelorism and short neck

Description from OMIM: 613328

Related Diseases for Roifman-Chitayat Syndrome

Diseases related to Roifman-Chitayat Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency, x-linked 10.3

Symptoms & Phenotypes for Roifman-Chitayat Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
lacrimal duct stenosis
thin optic nerves
puffy and droopy eyelids

Skeletal:
osteopenia
cone-shaped epiphyses

Abdomen External Features:
umbilical hernia

Neurologic Central Nervous System:
developmental delay
myoclonic seizures
dilated ventricles

Skeletal Feet:
short metatarsals

Head And Neck Face:
hypoplastic supraorbital ridges
square chin

Head And Neck Mouth:
thin lower lip

Genitourinary Kidneys:
cross-fused renal ectopia

Head And Neck Neck:
short neck

Immunology:
arthritis
repeated invasive infections
normal or elevated lymphocytes
low t-cell function
low igg with antibody deficiency

Respiratory Airways:
pneumonia

Skeletal Hands:
short metacarpals

Head And Neck Nose:
flat nasal bridge
broad nasal root

Cardiovascular Vascular:
aberrant subclavian artery

Abdomen Gastrointestinal:
esophageal dyskinesia


Clinical features from OMIM:

613328

Human phenotypes related to Roifman-Chitayat Syndrome:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 osteopenia 32 HP:0000938
4 global developmental delay 32 HP:0001263
5 arthritis 32 HP:0001369
6 depressed nasal bridge 32 HP:0005280
7 wide nasal bridge 32 HP:0000431
8 umbilical hernia 32 HP:0001537
9 abnormal facial shape 32 HP:0001999
10 optic atrophy 32 HP:0000648
11 ectopic kidney 32 HP:0000086
12 generalized myoclonic seizures 32 HP:0002123
13 cone-shaped epiphysis 32 HP:0010579
14 ventriculomegaly 32 HP:0002119
15 short metacarpal 32 HP:0010049
16 underdeveloped supraorbital ridges 32 HP:0009891
17 pneumonia 32 HP:0002090
18 short metatarsal 32 HP:0010743
19 lacrimal duct stenosis 32 HP:0007678
20 thin lower lip vermilion 32 HP:0010282

UMLS symptoms related to Roifman-Chitayat Syndrome:


myoclonic seizures

Drugs & Therapeutics for Roifman-Chitayat Syndrome

Search Clinical Trials , NIH Clinical Center for Roifman-Chitayat Syndrome

Genetic Tests for Roifman-Chitayat Syndrome

Anatomical Context for Roifman-Chitayat Syndrome

MalaCards organs/tissues related to Roifman-Chitayat Syndrome:

41
Kidney, T Cells

Publications for Roifman-Chitayat Syndrome

Articles related to Roifman-Chitayat Syndrome:

# Title Authors Year
1
Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. ( 19863561 )
2009

Variations for Roifman-Chitayat Syndrome

Expression for Roifman-Chitayat Syndrome

Search GEO for disease gene expression data for Roifman-Chitayat Syndrome.

Pathways for Roifman-Chitayat Syndrome

GO Terms for Roifman-Chitayat Syndrome

Sources for Roifman-Chitayat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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