Welcome to PhenoDis

Ruvalcaba syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms	55
OrphanetNr:	3121
OMIM Id:	180870
ICD-10:	Q87.8
UMLs:	C0265248
MeSH:
MedDRA:
Snomed:	3073006

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	X-linked dominant [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
X-linked syndromic intellectual deficit
-Rare genetic disease
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
2	(HPO:0000790)	Hematuria	Occasional [Orphanet]	106 / 7739
3	(HPO:0000028)	Cryptorchidism		347 / 7739
4	(HPO:0100542)	Abnormal localization of kidney	Occasional [Orphanet]	64 / 7739
5	(HPO:0000164)	Abnormality of the teeth	Very frequent [Orphanet]	291 / 7739
6	(HPO:0000430)	Underdeveloped nasal alae		90 / 7739
7	(HPO:0000678)	Dental crowding		65 / 7739
8	(HPO:0000444)	Convex nasal ridge	Very frequent [Orphanet]	87 / 7739
9	(HPO:0000460)	Narrow nose		14 / 7739
10	(HPO:0000348)	High forehead	Frequent [Orphanet]	157 / 7739
11	(HPO:0000494)	Downslanted palpebral fissures	Very frequent [Orphanet]	328 / 7739
12	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
13	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
14	(HPO:0000233)	Thin vermilion border	Very frequent [Orphanet]	124 / 7739
15	(HPO:0000160)	Narrow mouth	Very frequent [Orphanet]	188 / 7739
16	(HPO:0007982)	Central tapetoretinal dystrophy		1 / 7739
17	(HPO:0000512)	Abnormal electroretinogram	Occasional [Orphanet]	61 / 7739
18	(HPO:0000508)	Ptosis	Very frequent [Orphanet]	459 / 7739
19	(HPO:0000556)	Retinal dystrophy		65 / 7739
20	(HPO:0000649)	Abnormality of visual evoked potentials	Occasional [Orphanet]	34 / 7739
21	(HPO:0001249)	Intellectual disability		1089 / 7739
22	(HPO:0001250)	Seizures	Occasional [Orphanet]	1245 / 7739
23	(HPO:0000769)	Abnormality of the breast		5 / 7739
24	(HPO:0008373)	Puberty and gonadal disorders	Occasional [Orphanet]	156 / 7739
25	(HPO:0000823)	Delayed puberty		65 / 7739
26	(HPO:0004209)	Clinodactyly of the 5th finger	Occasional [Orphanet]	288 / 7739
27	(HPO:0001163)	Abnormality of the metacarpal bones	Very frequent [Orphanet]	149 / 7739
28	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
29	(HPO:0005048)	Synostosis of carpal bones	Very frequent [Orphanet]	39 / 7739
30	(HPO:0010579)	Cone-shaped epiphysis	Very frequent [Orphanet]	54 / 7739
31	(HPO:0200055)	Small hand	Very frequent [Orphanet]	71 / 7739
32	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
33	(HPO:0002983)	Micromelia	Very frequent [Orphanet]	130 / 7739
34	(HPO:0009623)	Proximal placement of thumb	Very frequent [Orphanet]	50 / 7739
35	(HPO:0010049)	Short metacarpal		99 / 7739
36	(HPO:0010743)	Short metatarsal		56 / 7739
37	(HPO:0009811)	Abnormality of the elbow	Frequent [Orphanet]	30 / 7739
38	(HPO:0002808)	Kyphosis	Very frequent [Orphanet]	289 / 7739
39	(HPO:0001773)	Short foot		86 / 7739
40	(HPO:0100734)	Abnormality of vertebral epiphysis morphology	Frequent [Orphanet]	4 / 7739
41	(HPO:0000774)	Narrow chest	Frequent [Orphanet]	167 / 7739
42	(HPO:0009803)	Short phalanx of finger		79 / 7739
43	(HPO:0000768)	Pectus carinatum	Frequent [Orphanet]	136 / 7739
44	(HPO:0001377)	Limited elbow extension		38 / 7739
45	(HPO:0000023)	Inguinal hernia		181 / 7739
46	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
47	(HPO:0001511)	Intrauterine growth retardation	Frequent [Orphanet]	358 / 7739
48	(HPO:0004322)	Short stature		1232 / 7739
49	(HPO:0011362)	Abnormal hair quantity	Occasional [Orphanet]	92 / 7739
50	(HPO:0001053)	Hypopigmented skin patches	Occasional [Orphanet]	80 / 7739
51	(OMIM)	Large areolae		1 / 7739
52	(OMIM)	Short limbs		17 / 7739
53	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
54	(OMIM)	Prominent elbows		1 / 7739
55	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Ruvalcaba et al. (1971) described 2 brothers, born to unrelated parents, who showed mental retardation, short stature, microcephaly, peculiar facies with hooked nose and small mouth, narrow thoracic cage with pectus carinatum, hypoplastic genitalia, hypoplastic 'onion skin' cutaneous ... Ruvalcaba et al. (1971) described 2 brothers, born to unrelated parents, who showed mental retardation, short stature, microcephaly, peculiar facies with hooked nose and small mouth, narrow thoracic cage with pectus carinatum, hypoplastic genitalia, hypoplastic 'onion skin' cutaneous lesions, and skeletal deformities including short metatarsals and metacarpals and epiphysitis of the spine. Because 2 female maternal cousins showed some of the same features, X-linked semi-dominant inheritance was considered. One of the girls seems to have been fully affected, however. She died at age 17 years with congenital hydrocephalus and the Dandy-Walker anomaly. Geormaneanu et al. (1978) reported a 7-year-old boy and his father with the syndrome and a possibly coincidental t(13q;14q) translocation. Bianchi et al. (1984) described a single case in an Italian male. Under the designation of Ruvalcaba syndrome, Sugio and Kajii (1984) described a kindred with 9 affected persons in 4 generations. They showed postnatal growth retardation, oval face with high forehead, antimongoloid slant of palpebral fissures (the kindred was Japanese), small, beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short digits. This kindred differed from that reported by Ruvalcaba et al. (1971) in the lack of mental retardation. Hunter (1985) disagreed with the diagnosis of Sugio and Kajii (1984) and considered the disorder to be different from Ruvalcaba syndrome. He pointed to the absence of mental retardation and microcephaly and the presence of sparse hair, beaked nose, long upper lip, and severe degree of metacarpal phalangeal shortness. Niikawa and Kamei (1986) proposed that this is a separate entity which should be called trichorhinophalangeal syndrome, type III (TRPS3; 190351). Adachi et al. (2010) reported a Japanese girl with clinical manifestations identical to those reported by Ruvalcaba et al. (1971). Born of unrelated parents, she presented at age 6 months with failure to thrive, multiple congenital anomalies, and developmental delay. She had microcephaly, brachycephaly, small and downslanting palpebral fissures, beaked nose with hypoplastic nasal alae, and synophrys. Skeletal anomalies included very short stature, small hands and feet, talipes planus, talipes valgus, short IV and V metacarpals, pectus excavatum, scoliosis, an irregular spinal endplate, and restricted motion of the hip joints. She also had gastric volvulus and recurrent ear infections resulting in hearing impairment. She was severely mentally retarded and had limited breast development at age 13 years. The patient's mother had acetabular dysplasia and downslanting palpebral fissures. Molecular studies of the proband excluded mutation in the TRPS1 (604386) and GNAS1 (139320) genes, and 244K-CGH microarray analysis was negative. Adachi et al. (2010) concluded that Ruvalcaba syndrome is a distinct disease entity.

Symptoms & Signs

	Field	Query
	Disease
	Symptom