Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. European Journal of Human Genetics, 25 (1), 43-51. [rug.nl]

stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion 0002948 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge [rarediseases.info.nih.gov]

stature IEA IEA OMIM-CS:GROWTH_HEIGHT SHORT STATURE OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0001510 Growth delay IEA IEA OMIM-CS:GROWTH_OTHER GROWTH RETARDATION OMIM:615583 [sourceforge.net]

Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies short stature-characteristic facies-mental [ghr.nlm.nih.gov]

Some patients only have a small bald area on the scalp and short fingers, while others are born with absence of skin on parts of the scalp, defects of the skull bones and complete absence of fingers or toes. [atlasofscience.org]

Typical CHARGE hand: square hand, short fingers, finger-like thumb, hockey-stick palmar crease Testing Cytogenetic analysis. [ncbi.nlm.nih.gov]

Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL POOR [sourceforge.net]

This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. [books.google.de]

Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL POOR [sourceforge.net]

Clinical symptoms that indicate the presence of a bacterial infection would be production of greenish sputum and the presence of high fever. [slidedoc.us]

dislocation Short 5th finger Abnormality of the abdomen ... ... [familydiagnosis.com]

Treatment is based on the signs and symptoms present in each person. 0011968 Global developmental delay 0001263 Hemivertebrae Missing part of vertebrae 0002937 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Long philtrum 0000343 Microcephaly [rarediseases.info.nih.gov]

Hip dislocation MedGen UID: 42455 • Concept ID: C0019554 • Injury or Poisoning A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum. [ncbi.nlm.nih.gov]

dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002948 Vertebral fusion IEA IEA OMIM-CS:SKELETAL_SPINE FUSED VERTEBRAE [sourceforge.net]

fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body [rarediseases.info.nih.gov]

FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 [sourceforge.net]

fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body [rarediseases.info.nih.gov]

FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 [sourceforge.net]

Patients 2 (DDD273705), 7, 9, 10 and 12 also had joint hypermobility; in one case this was associated with bilateral hip and interphalangeal joint dislocations. [nature.com]

dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD) Congenital disorders of amino acid metabolism Phenylketonuria Tyrosinemia Alkaptonuria Hermansky-Pudlak syndrome Oculocutaneous albinism (OCA) Ocular albinism [csirnotes.com]

[…] body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion 0002948 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased [rarediseases.info.nih.gov]

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. September-October 2009; 52(5):353-357. [rarediseases.info.nih.gov]

Verheij JBGM, de Munnik SA, Dijkhuizen T et al : An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. [nature.com]

Affiliated tissues include kidney, heart and bone, and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal [malacards.org]

Short neck MedGen UID: 99267 • Concept ID: C0521525 • Finding Diminished length of the neck. [ncbi.nlm.nih.gov]

neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion [rarediseases.info.nih.gov]

neck IEA IEA OMIM-CS:HEAD AND NECK_NECK SHORT NECK OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE BROAD NASAL ROOT OMIM [sourceforge.net]

Affiliated tissues include kidney, heart and bone, and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal [malacards.org]

Short neck MedGen UID: 99267 • Concept ID: C0521525 • Finding Diminished length of the neck. [ncbi.nlm.nih.gov]

neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion [rarediseases.info.nih.gov]

neck IEA IEA OMIM-CS:HEAD AND NECK_NECK SHORT NECK OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE BROAD NASAL ROOT OMIM [sourceforge.net]

Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly [familydiagnosis.com]

Short nose MedGen UID: 343052 • Concept ID: C1854114 • Finding Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [ncbi.nlm.nih.gov]

nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Thin upper lip vermilion Thin upper lip 0000219 Vertebral fusion Spinal fusion 0002948 Wide nasal bridge Broad nasal bridge [rarediseases.info.nih.gov]

nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE SHORT NOSE OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:INHERITANCE AUTOSOMAL DOMINANT [sourceforge.net]

Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly [familydiagnosis.com]

Narrow forehead MedGen UID: 326956 • Concept ID: C1839758 • Finding Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). [ncbi.nlm.nih.gov]

forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine [rarediseases.info.nih.gov]

forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE BITEMPORAL NARROWING OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE LONG PHILTRUM [sourceforge.net]

Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly [familydiagnosis.com]

Narrow forehead MedGen UID: 326956 • Concept ID: C1839758 • Finding Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). [ncbi.nlm.nih.gov]

forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine [rarediseases.info.nih.gov]

forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE BITEMPORAL NARROWING OMIM:615583 HPO:skoehler 06.02.2014 OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE LONG PHILTRUM [sourceforge.net]

kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine 0002650 Short 5th finger Short fifth finger Short fifth fingers Short [rarediseases.info.nih.gov]

kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine 0002650 Short 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length [rarediseases.info.nih.gov]