14q22q23 microdeletion syndrome

14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 40

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000378 Cupped ear Very frequent (99-80%)
HP:0000384 Preauricular skin tag Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000528 Anophthalmia Very frequent (99-80%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0012521 Optic nerve aplasia Very frequent (99-80%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000873 Diabetes insipidus Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0010627 Anterior pituitary hypoplasia Frequent (79-30%)
HP:0000089 Renal hypoplasia Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000835 Adrenal hypoplasia Occasional (29-5%)
HP:0001558 Decreased fetal movement Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0001773 Short foot Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004279 Short palm Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0007598 Bilateral single transverse palmar creases Occasional (29-5%)
HP:0010044 Short 4th metacarpal Occasional (29-5%)
HP:0010047 Short 5th metacarpal Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID