Ruvalcaba syndrome

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(79.3%)		 2679089
 Apparent Ruvalcaba syndrome with genitourinary abnormalities.
Bialer MG, Wilson WG, Kelly TE.
Am J Med Genet. 1989;33(3):314-7.
Thin upper lip vermilion Upslanted palpebral fissure Narrow maxilla Short finger
Adult Bone Diseases, Developmental Face Females Homo sapiens Intellectual Disability Syndrome Urogenital Abnormalities
2
(73.2%)		 6517098
 Ruvalcaba syndrome: autosomal dominant inheritance.
Sugio Y, Kajii T.
Am J Med Genet. 1984;19(4):741-53.
Thin vermilion border Short finger
Adult Child, Preschool Dwarfism Face Females Fingers Genes, Dominant Homo sapiens Infant Male Middle Aged Syndrome
3
(39.0%)		 29194042
 A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty.
Ozsu E, Sen A, Ceylaner S.
J Pediatr Endocrinol Metab. 2018;31(1):95-99.
Macrocephaly
Calculi Child Dwarfism Facies Homo sapiens Male Mutation Osteochondritis PTEN Phosphohydrolase Phenotype Precocious Puberty Testicular Diseases
3
(39.0%)		 10640930
 An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.
Perriard J, Saurat JH, Harms M.
J Am Acad Dermatol. 2000;42(2 Pt 2):348-50.
Macrocephaly
PTEN
Adult Alleles Child Chromosomes, Human, Pair 10 Follow-Up Studies Hamartoma Syndrome, Multiple Homo sapiens Male Skin Syndrome
5
(4.0%)		 6489381
 Ruvalcaba syndrome: a case report.
Bianchi E, Livieri C, Arico M, Cattaneo E, Podesta AF, Beluffi G.
Eur J Pediatr. 1984;142(4):301-3.
Short stature
Bone Diseases, Developmental Bone and Bones Dwarfism Foot Hand Homo sapiens Intellectual Disability Male Syndrome
5
(4.0%)		 2248298
 Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome.
Van Maldergem L, Gillerot Y, Perlmutter N, Wetzburger C, Koulischer L.
Am J Med Genet. 1990;37(2):283-5.
Short stature
Adult Body Height Eye Abnormalities Females Homo sapiens Intellectual Disability Male Mouth Abnormalities Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000678 Dental crowding Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0009623 Proximal placement of thumb Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0010579 Cone-shaped epiphysis Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000768 Pectus carinatum Frequent (79-30%)
HP:0000774 Narrow chest Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0100734 Abnormality of vertebral epiphysis morphology Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000512 Abnormal electroretinogram Occasional (29-5%)
HP:0000649 Abnormality of visual evoked potentials Occasional (29-5%)
HP:0000790 Hematuria Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001053 Hypopigmented skin patches Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002230 Generalized hirsutism Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 17

HPO ID Term # of case reports
HP:0000233 Thin vermilion border 1
HP:0000256 Macrocephaly 1
HP:0000300 Oval face 1
HP:0000307 Pointed chin 1
HP:0000348 High forehead 1
HP:0000582 Upslanted palpebral fissure 1
HP:0000767 Pectus excavatum 1
HP:0002020 Gastroesophageal reflux 1
HP:0002205 Recurrent respiratory infections 1
HP:0002652 Skeletal dysplasia 1
HP:0008897 Postnatal growth retardation 1
HP:0009381 Short finger 1
HP:0012032 Lipoma 1
HP:0012215 Testicular microlithiasis 1
HP:0012733 Macule 1
HP:0100789 Torus palatinus 1
HP:0100790 Hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID