Microbrachycephaly - ptosis - cleft lip

General Information (adopted from Orphanet):

Synonyms, Signs: SAO PAULO MCA/MR SYNDROME
SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE
Richieri Costa-Guion Almeida-Ramos syndrome
Number of Symptoms 54
OrphanetNr: 2511
OMIM Id: 268850
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000490) Deeply set eye 131 / 7739
2
 (HPO:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
3
 (HPO:0000612) Iris coloboma 116 / 7739
4
 (HPO:0000625) Cleft eyelid 31 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
7
 (HPO:0000565) Esotropia 58 / 7739
8
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
 (HPO:0010547) Muscle flaccidity 466 / 7739
13
 (HPO:0001324) Muscle weakness 859 / 7739
14
 (HPO:0002066) Gait ataxia 327 / 7739
15
 (HPO:0000717) Autism 108 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0011297) Abnormality of digit 4 / 7739
18
 (HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
19
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
20
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
21
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
22
 (HPO:0007517) Palmoplantar cutis laxa 9 / 7739
23
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
24
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
25
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
26
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
27
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
28
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
29
 (HPO:0000341) Narrow forehead 96 / 7739
30
 (HPO:0000767) Pectus excavatum Very frequent [Orphanet] 244 / 7739
31
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
32
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
33
 (HPO:0003298) Spina bifida occulta 67 / 7739
34
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
35
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
36
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
37
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
38
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
39
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
40
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
41
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
42
 (HPO:0000175) Cleft palate 349 / 7739
43
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
44
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
45
 (HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
46
 (HPO:0000365) Hearing impairment 539 / 7739
47
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
48
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
49
 (OMIM) Asymmetric palpebral fissure 1 / 7739
50
 (OMIM) Coloboma of the retina 1 / 7739
51
 (OMIM) Lumbosacral anomalies 1 / 7739
52
 (OMIM) Pelvic anomalies 1 / 7739
53
 (OMIM) Prominent mandible 5 / 7739
54
 (OMIM) Wrinkling of skin on limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate.
Clinical Description OMIM Richieri-Costa and Guion-Almeida (1992) described 3 Brazilian brothers with short stature, microbrachycephaly, mental retardation, prominent supraorbital ridges, asymmetric palpebral fissures, palpebral ptosis, deep-set eyes, coloboma of iris and retina, nystagmus, strabismus, malar hypoplasia, and cleft lip/palate.

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