MCID: RCH010
MIFTS: 26

Richieri-Costa/guion-Almeida Syndrome

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Richieri-Costa/guion-Almeida Syndrome

MalaCards integrated aliases for Richieri-Costa/guion-Almeida Syndrome:

Name: Richieri-Costa/guion-Almeida Syndrome 56 29
Short Stature, Mental Retardation, Eye Anomalies, and Cleft Lip/palate 56
Microbrachycephaly-Ptosis-Cleft Lip Syndrome 58
Richieri Costa-Guion Almeida-Ramos Syndrome 58
Richieri Costa Guion-Almeida Syndrome 71
Sao Paulo Mca/mr Syndrome 56
Sao Paulo Mca-Mr Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
microbrachycephaly-ptosis-cleft lip syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
?autosomal recessive

Miscellaneous:
possibly x-linked recessive inheritance


HPO:

31
richieri-costa/guion-almeida syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Richieri-Costa/guion-Almeida Syndrome

OMIM : 56 The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992). (268850)

MalaCards based summary : Richieri-Costa/guion-Almeida Syndrome, also known as short stature, mental retardation, eye anomalies, and cleft lip/palate, is related to richieri-costa guion-almeida cohen syndrome and microbrachycephaly ptosis cleft lip, and has symptoms including gait ataxia Affiliated tissues include eye, bone and retina, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Richieri-Costa/guion-Almeida Syndrome

Diseases related to Richieri-Costa/guion-Almeida Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 richieri-costa guion-almeida cohen syndrome 12.3
2 microbrachycephaly ptosis cleft lip 11.7
3 cleft lip 10.9
4 cleft lip/palate 10.9
5 coloboma of macula 10.7
6 ptosis 10.7
7 monocular esotropia 10.7
8 microcephaly 10.7
9 pathologic nystagmus 10.7
10 esotropia 10.7
11 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.7
12 strabismus 10.4
13 mechanical strabismus 10.4
14 coloboma of iris 10.4

Graphical network of the top 20 diseases related to Richieri-Costa/guion-Almeida Syndrome:



Diseases related to Richieri-Costa/guion-Almeida Syndrome

Symptoms & Phenotypes for Richieri-Costa/guion-Almeida Syndrome

Human phenotypes related to Richieri-Costa/guion-Almeida Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
7 abnormal thumb morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001172
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 hearing abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000364
10 large iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008818
11 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
12 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
13 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
14 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
15 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
16 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
17 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
18 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
19 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
20 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
21 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
22 hypotelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000601
23 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
24 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
25 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
26 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
27 abnormality of the wrist 58 31 hallmark (90%) Very frequent (99-80%) HP:0003019
28 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
29 unilateral cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100333
30 shagreen patch 58 31 hallmark (90%) Very frequent (99-80%) HP:0009721
31 abnormality of the pubic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003172
32 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
33 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
34 hearing impairment 31 HP:0000365
35 prominent supraorbital ridges 31 HP:0000336
36 short stature 31 HP:0004322
37 nystagmus 31 HP:0000639
38 cleft palate 31 HP:0000175
39 autism 31 HP:0000717
40 downslanted palpebral fissures 31 HP:0000494
41 iris coloboma 31 HP:0000612
42 cleft upper lip 31 HP:0000204
43 deeply set eye 31 HP:0000490
44 spina bifida occulta 31 HP:0003298
45 abnormality of finger 58 Very frequent (99-80%)
46 gait ataxia 31 HP:0002066
47 generalized hypotonia 31 HP:0001290
48 esotropia 31 HP:0000565
49 abnormality of the ear 58 Very frequent (99-80%)
50 narrow forehead 31 HP:0000341

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
prominent supraorbital ridges
nystagmus
cleft eyelid
esotropia
downslanting palpebral fissures
more
Neurologic Behavioral Psychiatric Manifestations:
autism

Neurologic Central Nervous System:
hypotonia
ataxic gait

Head And Neck Face:
malar hypoplasia

Skeletal Hands:
digital anomalies

Skin Nails Hair Skin:
wrinkling of skin on limbs

Head And Neck Mouth:
cleft palate
prominent mandible

Skeletal Spine:
spina bifida occulta
lumbosacral anomalies

Head And Neck Ears:
deafness

Skeletal Pelvis:
pelvic anomalies

Skeletal Feet:
digital anomalies

Clinical features from OMIM:

268850

UMLS symptoms related to Richieri-Costa/guion-Almeida Syndrome:


gait ataxia

Drugs & Therapeutics for Richieri-Costa/guion-Almeida Syndrome

Search Clinical Trials , NIH Clinical Center for Richieri-Costa/guion-Almeida Syndrome

Genetic Tests for Richieri-Costa/guion-Almeida Syndrome

Genetic tests related to Richieri-Costa/guion-Almeida Syndrome:

# Genetic test Affiliating Genes
1 Richieri-Costa/guion-Almeida Syndrome 29

Anatomical Context for Richieri-Costa/guion-Almeida Syndrome

MalaCards organs/tissues related to Richieri-Costa/guion-Almeida Syndrome:

40
Eye, Bone, Retina, Skin

Publications for Richieri-Costa/guion-Almeida Syndrome

Articles related to Richieri-Costa/guion-Almeida Syndrome:

# Title Authors PMID Year
1
The nosology of Richieri-Costa/Guion-Almeida syndrome(s). 56 61
21271661 2011
2
New case of the Richieri-Costa/Guion-Almeida syndrome. 56 61
10232755 1999
3
Short stature, mental retardation, eye anomalies, and cleft lip/palate. 61 56
1609826 1992
4
Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies. 56
1605250 1992

Variations for Richieri-Costa/guion-Almeida Syndrome

Expression for Richieri-Costa/guion-Almeida Syndrome

Search GEO for disease gene expression data for Richieri-Costa/guion-Almeida Syndrome.

Pathways for Richieri-Costa/guion-Almeida Syndrome

GO Terms for Richieri-Costa/guion-Almeida Syndrome

Sources for Richieri-Costa/guion-Almeida Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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