X small rings

X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.



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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:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000637 Long palpebral fissure Very frequent (99-80%)
HP:0000786 Primary amenorrhea Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001319 Neonatal hypotonia Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0001647 Bicuspid aortic valve Very frequent (99-80%)
HP:0001718 Mitral stenosis Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002616 Aortic root aneurysm Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0008209 Premature ovarian insufficiency Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0012725 Cutaneous syndactyly Very frequent (99-80%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0009816 Lower limb undergrowth Frequent (79-30%)
HP:0009824 Upper limb undergrowth Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001388 Joint laxity Occasional (29-5%)
HP:0001562 Oligohydramnios Occasional (29-5%)
HP:0002069 Generalized tonic-clonic seizures Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004691 2-3 toe syndactyly Occasional (29-5%)
HP:0010945 Fetal pyelectasis Occasional (29-5%)
HP:0400000 Tall chin 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