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General Information (adopted from Orphanet):

Synonyms, Signs:	Richieri Costa-Guion Almeida syndrome
Number of Symptoms	14
OrphanetNr:	2649
OMIM Id:	608578
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	3 cases [Orphanet]
Inheritance:	Autosomal recessive X-linked 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

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000490)	Deeply set eye	Very frequent [Orphanet]	131 / 7739
2	(HPO:0000202)	Oral cleft	Very frequent [Orphanet]	120 / 7739
3	(HPO:0000248)	Brachycephaly	Very frequent [Orphanet]	222 / 7739
4	(HPO:0010650)	Hypoplasia of the premaxilla	Very frequent [Orphanet]	39 / 7739
5	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
6	(HPO:0000639)	Nystagmus	Very frequent [Orphanet]	555 / 7739
7	(HPO:0000479)	Abnormality of the retina	Very frequent [Orphanet]	74 / 7739
8	(HPO:0000612)	Iris coloboma	Frequent [Orphanet]	116 / 7739
9	(HPO:0000508)	Ptosis	Occasional [Orphanet]	459 / 7739
10	(HPO:0000486)	Strabismus	Very frequent [Orphanet]	576 / 7739
11	(HPO:0001249)	Intellectual disability		1089 / 7739
12	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
13	(HPO:0007495)	Prematurely aged appearance	Very frequent [Orphanet]	44 / 7739
14	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739

Additional Information:

Clinical Description OMIM

Guion-Almeida and Richieri-Costa (2001) described a Brazilian boy, born to normal nonconsanguineous parents, with brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent ... Guion-Almeida and Richieri-Costa (2001) described a Brazilian boy, born to normal nonconsanguineous parents, with brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high-arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. They cited 3 previous reports of a similar syndrome, 2 of which were described by them. One case, which they (Guion-Almeida and Richieri-Costa, 1992) had originally reported as acrocallosal syndrome, was in a Brazilian girl, born to nonconsanguineous parents, who had diffuse cortical atrophy associated with agenesis of the corpus callosum, as well as frontonasal dysostosis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Another case (Guion-Almeida and Richieri-Costa, 1999) was in a Brazilian girl, born to normal nonconsanguineous parents, with brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, gray matter heterotopia, and mental retardation. The third case, reported by Masuno et al. (2000), was in a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Winter (2001) reviewed several reports that are listed in this entry and in entries 606155 and 606156. He noted considerable overlap between the cases and suggested that they represent a syndrome, which he called cerebrofrontofacial syndrome, comprised of 3 types based on brain MRI findings. The brain scans in type 1 are characterized by periventricular nodular heterotopia. In type 2, there are multiple cystic areas in the white matter radiating at right angles to the ventricles. These are interpreted as being dilated Virchow-Robin spaces. In type 3, there is no periventricular nodular heterotopia or cystic areas of the brain.

Short stature - intellectual deficit - eye anomalies - cleft lip/palate

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

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