Short stature-wormian bones-dextrocardia syndrome

A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 15211658
 Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.
Spadoni E, Castelnovi C, Maraschio P, Stacul E, Beluffi G, Bozzola M, Danesino C.
Am J Med Genet A. 2004;128A(1):57-9.
Enlarged cisterna magna
GH1
Cryptorchidism Developmental Disabilities Growth Hormone Homo sapiens Hypopituitarism Male Phenotype Rectum Syndrome
1
(39.0%)		 8209896
 Stratton-Parker syndrome: confirmation of a new entity.
Gabrielli O, Carloni I, Catassi C, Natalini G, Coppa GV, Giorgi P.
Am J Med Genet. 1994;49(3):333-6.
Wormian bones
GH1
Bone and Bones Cerebral Ventricles Child Face Growth Disorders Growth Hormone Homo sapiens Male Syndrome Ventricular Septal Defects
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000187 Broad alveolar ridges Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000288 Abnormality of the philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000437 Depressed nasal tip Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000684 Delayed eruption of teeth Very frequent (99-80%)
HP:0000830 Anterior hypopituitarism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001643 Patent ductus arteriosus Very frequent (99-80%)
HP:0001651 Dextrocardia Very frequent (99-80%)
HP:0002023 Anal atresia Very frequent (99-80%)
HP:0002645 Wormian bones Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0009804 Reduced number of teeth Very frequent (99-80%)
HP:0012854 Midshaft hypospadias Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000824 Growth hormone deficiency 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID