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Richieri Costa-Pereira syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	RICHIERI-COSTA-PEREIRA SYNDROME Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot
Number of Symptoms	66
OrphanetNr:	3102
OMIM Id:	268305
ICD-10:	Q87.8
UMLs:	C1849348
MeSH:	C535677
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
Orofacial clefting syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0011968)	Feeding difficulties		240 / 7739
2	(HPO:0002093)	Respiratory insufficiency	Frequent [Orphanet]	410 / 7739
3	(HPO:0008744)	Abnormality of the aryepiglottic fold		1 / 7739
4	(HPO:0008753)	Aplasia of the epiglottis		1 / 7739
5	(HPO:0001608)	Abnormality of the voice		126 / 7739
6	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
7	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
8	(HPO:0001263)	Global developmental delay		853 / 7739
9	(HPO:0009803)	Short phalanx of finger		79 / 7739
10	(HPO:0004209)	Clinodactyly of the 5th finger	Frequent [Orphanet]	288 / 7739
11	(HPO:0009601)	Aplasia/Hypoplasia of the thumb	Very frequent [Orphanet]	80 / 7739
12	(HPO:0009778)	Short thumb		50 / 7739
13	(HPO:0009623)	Proximal placement of thumb	Occasional [Orphanet]	50 / 7739
14	(HPO:0100499)	Tibial deviation of toes		1 / 7739
15	(HPO:0001762)	Talipes equinovarus	Very frequent [Orphanet]	309 / 7739
16	(HPO:0008807)	Acetabular dysplasia	rare [HPO:skoehler]	6 / 7739
17	(HPO:0003179)	Protrusio acetabuli		37 / 7739
18	(HPO:0002827)	Hip dislocation	rare [HPO:skoehler]	94 / 7739
19	(HPO:0001385)	Hip dysplasia		242 / 7739
20	(HPO:0002999)	Patellar dislocation		46 / 7739
21	(HPO:0002992)	Abnormality of the tibia	Occasional [Orphanet]	51 / 7739
22	(HPO:0003038)	Fibular hypoplasia	rare [HPO:skoehler]	30 / 7739
23	(HPO:0005736)	Short tibia	rare [HPO:skoehler]	19 / 7739
24	(HPO:0002818)	Abnormality of the radius	Frequent [Orphanet]	96 / 7739
25	(HPO:0002984)	Hypoplasia of the radius		44 / 7739
26	(HPO:0003994)	Dislocated wrist		24 / 7739
27	(HPO:0001163)	Abnormality of the metacarpal bones	Frequent [Orphanet]	149 / 7739
28	(HPO:0009486)	Radial deviation of the hand	Very frequent [Orphanet]	13 / 7739
29	(HPO:0010049)	Short metacarpal		99 / 7739
30	(HPO:0003042)	Elbow dislocation		89 / 7739
31	(HPO:0005021)	Bilateral elbow dislocations		24 / 7739
32	(HPO:0003834)	Shoulder dislocation		28 / 7739
33	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
34	(HPO:0000347)	Micrognathia		426 / 7739
35	(HPO:0000308)	Microretrognathia		78 / 7739
36	(HPO:0010752)	Cleft mandible		1 / 7739
37	(HPO:0000894)	Short clavicles		30 / 7739
38	(HPO:0001373)	Joint dislocation		59 / 7739
39	(HPO:0012095)	Multiple joint dislocation		24 / 7739
40	(HPO:0009094)	Cleft lower alveolar ridge		1 / 7739
41	(HPO:0000174)	Abnormality of the palate	Very frequent [Orphanet]	298 / 7739
42	(HPO:0000193)	Bifid uvula		66 / 7739
43	(HPO:0000175)	Cleft palate		349 / 7739
44	(HPO:0000218)	High palate		356 / 7739
45	(HPO:0002705)	High, narrow palate	Occasional [Orphanet]	308 / 7739
46	(HPO:0006355)	Agenesis of mandibular central incisor		2 / 7739
47	(HPO:0009804)	Reduced number of teeth	Frequent [Orphanet]	137 / 7739
48	(HPO:0000162)	Glossoptosis	Frequent [Orphanet]	26 / 7739
49	(HPO:0000160)	Narrow mouth	Very frequent [Orphanet]	188 / 7739
50	(HPO:0000201)	Pierre-Robin sequence		20 / 7739
51	(HPO:0000448)	Prominent nose		56 / 7739
52	(HPO:0002006)	Facial cleft	Frequent [Orphanet]	25 / 7739
53	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
54	(HPO:0000369)	Low-set ears		372 / 7739
55	(HPO:0000411)	Protruding ear	Very frequent [Orphanet]	140 / 7739
56	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
57	(HPO:0030043)	Hip Subluxation	rare [HPO:skoehler]	9 / 7739
58	(OMIM)	Absent lower central incisors		2 / 7739
59	(OMIM)	Absent/abnormal epiglottis		1 / 7739
60	(OMIM)	Deformity of the distal extremity of the humerus		1 / 7739
61	(OMIM)	Delayed ossification of the skull		1 / 7739
62	(OMIM)	Fusion of metacarpal bones		1 / 7739
63	(OMIM)	Hypoplastic metacarpal bones		1 / 7739
64	(OMIM)	Pseudoarthrosis of the clavicle (rare)		1 / 7739
65	(OMIM)	Short, round larynx		1 / 7739
66	(OMIM)	Subluxated thumbs		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Richieri-Costa and Pereira (1992) described a seemingly distinct entity in 5 unrelated Brazilian patients. The features were short stature, Robin sequence, cleft mandible, and limb defects. The ears were low set and prominent. Retromicrognathia, microstomia, highly arched palate, ... Richieri-Costa and Pereira (1992) described a seemingly distinct entity in 5 unrelated Brazilian patients. The features were short stature, Robin sequence, cleft mandible, and limb defects. The ears were low set and prominent. Retromicrognathia, microstomia, highly arched palate, and cleft lower alveolar ridge was accompanied by hypoplastic mandible and cleft through the midline with absence of the lower incisors by x-ray. The thumbs were hypoplastic, as was the distal part of the tibias with proximal and lateral displacement of the fibulas and clubfoot. Females had apparently normal intellect; the oldest was 6 years at the time of the report. Affected males were either stillborn or died within 1 week of birth; more severe defects, including apodia, were noted in 1. Richieri-Costa and Pereira (1993) reported 2 male patients, aged 1 year and 13 years, from 2 unrelated Brazilian families, who were no more severely affected than previously reported females. Since 6 of the 7 reported families came from the same area of Sao Paulo, Richieri-Costa and Pereira (1993) thought it likely that they had a common ancestor. Tabith and Bento-Goncalves (1996) examined 5 patients with the Richieri-Costa-Pereira syndrome, 3 of whom had previously been reported by Richieri-Costa and Pereira (1992, 1993). All patients had the same laryngeal anomalies with variable severity: small, round larynx, absent or hypoplastic epiglottis, hypertrophic aryepiglottic folds, and a fold in the posterior part of the larynx above the level of the glottis. During emission of sounds there was a medialization of the aryepiglottic folds, probably a protection mechanism of the inferior airways upon swallowing. Tabith and Bento-Goncalves (1996) concluded that these anatomic and functional abnormalities cause the voice disorder (marked hoarseness and breathiness) characteristic of the syndrome. Tabith and Bento-Goncalves (2003) examined 2 additional patients with this syndrome and found the same laryngeal alterations and voice characteristics. Walter-Nicolet et al. (1999) described this syndrome in a newborn French boy who probably represented the first non-Brazilian case. Born to consanguineous parents, he showed cleft mandible, pre/postaxial hand anomalies, and clubfoot. Ferreira de Lima et al. (2003) studied 15 families using identity by descent as a hypothesis to attempt gene localization. Fourteen families were Brazilian, suggesting a founder effect. They examined through linkage analysis 497 polymorphic markers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes were found. Golbert et al. (2007) reported another Brazilian female with this disorder, the offspring of second-degree cousins of Portuguese ancestry. In addition to previously reported features, she had pseudarthrosis of the clavicle, hip subluxation with bilateral acetabular dysplasia, and mesomelic shortening of the limbs (hypoplasia of tibia and fibula). Graziadio et al. (2009) reported a 19-year-old Brazilian woman, born of consanguineous parents, who had short stature, microstomia, micrognathia, pre- and postaxial hand anomalies, and clubfeet, as well as mesomelic shortening of the lower limbs. The authors noted that although the patient did not have an overt mandibular cleft, she lacked the lower central incisors, indicative of an anomaly. Graziadio et al. (2009) stated that this was the first report of an adult with this condition.

Symptoms & Signs

	Field	Query
	Disease
	Symptom