Spondyloepiphyseal dysplasia, Cantu type

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.9%)		 17515304
 SED-brachydactyly and distinctive speech: report of two new cases.
Garcia-Cruz D, Zafra de la Rosa GF, Sanchez-Corona J, Nazara Z, Lopez-Cardona MG, Garcia-Ortiz JE, Corona-Rivera JR, Cantu JM.
Genet Couns. 2007;18(1):85-97.
Blepharophimosis Brachydactyly Broad long bones
Adult Child, Preschool Dwarfism Facies Females Fingers Genetic Diseases, X-Linked Hair Homo sapiens Male Speech Disorders Syndrome Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000179 Thick lower lip vermilion Frequent (79-30%)
HP:0000215 Thick upper lip vermilion Frequent (79-30%)
HP:0000306 Abnormality of the chin Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000475 Broad neck Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001608 Abnormality of the voice Frequent (79-30%)
HP:0001832 Abnormal metatarsal morphology Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002164 Nail dysplasia Frequent (79-30%)
HP:0002212 Curly hair Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0002967 Cubitus valgus Frequent (79-30%)
HP:0003026 Short long bone Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004634 Cuboid-shaped vertebral bodies Frequent (79-30%)
HP:0005069 Rhizo-meso-acromelic limb shortening Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0005622 Broad long bones Frequent (79-30%)
HP:0006394 Limited pronation/supination of forearm Frequent (79-30%)
HP:0007665 Curly eyelashes Frequent (79-30%)
HP:0008496 Multiple rows of eyelashes Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0008839 Hypoplastic pelvis Frequent (79-30%)
HP:0009103 Aplasia/Hypoplasia involving the pelvis Frequent (79-30%)
HP:0009937 Facial hirsutism Frequent (79-30%)
HP:0010306 Short thorax Frequent (79-30%)
HP:0011829 Narrow philtrum Frequent (79-30%)
HP:0100625 Enlarged thorax Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000581 Blepharophimosis 1
HP:0000582 Upslanted palpebral fissure 1
HP:0001156 Brachydactyly 1
HP:0002655 Spondyloepiphyseal dysplasia 1
HP:0004322 Short stature 1
HP:0005622 Broad long bones 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID