Short Stature: Causes & Reasons

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Possible Causes for Short Stature

Growth Hormone Deficiency

Short stature is one of the clinical manifestations in these children. [ncbi.nlm.nih.gov]

We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). [ncbi.nlm.nih.gov]

However, growth retardation in dopa-responsive dystonia has rarely been reported, and the etiology of short stature is not clarified. [ncbi.nlm.nih.gov]

Wolcott-Rallison Syndrome

[…] liver failure, or pancytopenia, diabetes associated with skeletal dysplasia, short stature, episodes of acute liver failure, or pancytopenia. [abstracts.eurospe.org]

Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. [ncbi.nlm.nih.gov]

The older sister presented with PNDM, exocrine pancreatic insufficiency, short stature, microcephaly, normocytic anemia, delay in speech development, skeletal abnormalities [ncbi.nlm.nih.gov]

Mucopolysaccharidosis

His skeletal deformity and short stature remained unchanged. [ncbi.nlm.nih.gov]

The intermediate type has the phenotype similar to that in mucolipidosis iii with coarse hurler-like facies, stiff joints with decreased mobility, and short stature. [icd9data.com]

Many children develop a short body trunk and a maximum stature of less than 4 feet. [en.wikipedia.org]

Pseudopseudohypoparathyroidism

She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones. [doi.org]

A case is presented of a prepubertal girl with the characteristic somatic features of Albright's hereditary osteodystrophy, including severe short stature, cataracts and shortening [ncbi.nlm.nih.gov]

Typical findings include short stature, obesity, round facies, and reduced length of metacarpal and metatarsal bones, but without resistance to parathyroid hormone (PTH), [symptoma.com]

Pseudohypoparathyroidism Type 1A

Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO. [ncbi.nlm.nih.gov]

This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications. [jhu.pure.elsevier.com]

stature, obesity, brachydactyly, and sc ossifications. [ncbi.nlm.nih.gov]

MELAS Syndrome

stature. [ncbi.nlm.nih.gov]

Early development is usually normal except for short stature. [pediatricneurologybriefs.com]

stature, vomiting, headache, cortical blindness, deafness and dementia. [e-arm.org]

Rothmund-Thomson Syndrome

Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands. [ncbi.nlm.nih.gov]

It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity [ncbi.nlm.nih.gov]

The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective [ncbi.nlm.nih.gov]

Mowat-Wilson Syndrome

Other features include short stature and intellectual disabilities. It is inherited as an autosomal recessive condition. [accessanesthesiology.mhmedical.com]

Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital [ncbi.nlm.nih.gov]

stature, epilepsy, and microcephaly. [ncbi.nlm.nih.gov]

Turner Syndrome

stature (Short-Stature Group) were enrolled. [ncbi.nlm.nih.gov]

We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). [ncbi.nlm.nih.gov]

Short stature was the main reason for referral of patients with and without TS. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

Early bone involvement leads to decreased growth velocity and short stature in nearly all patients. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis type II is a multisystem disorder and symptoms include coarse face, short stature, skeletal abnormalities, recurrent infections, cardiomyopathy, hepatomegaly [symptoma.com]

Recurrent otitis media Recurrent middle ear infection 0000403 Scaphocephaly 0030799 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 [rarediseases.info.nih.gov]

Progressive Familial Intrahepatic Cholestasis

stature. [ncbi.nlm.nih.gov]

Additional manifestations may include short stature, sensorineural deafness, watery diarrhea, pancreatitis, elevated sweat electrolyte concentration and liver steatosis. [orpha.net]

Extrahepatic features have been reported including persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness. [orpha.net]

Proximal Renal Tubular Acidosis

Though rare, recessive SLC4A4 mutations have been reported in patients with proximal renal tubular acidosis, short stature, and ocular pathology. [ncbi.nlm.nih.gov]

stature. [ncbi.nlm.nih.gov]

Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, short stature and ocular abnormalities. [ncbi.nlm.nih.gov]

Baller-Gerold Syndrome

In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A>C). [ncbi.nlm.nih.gov]

Abstract : We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. [hal.archives-ouvertes.fr]

Definition An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent [uniprot.org]

Ehlers-Danlos Syndrome Type 4

On examination, she was short-statured, had curly wispy hair, pinched nose, hyper-pigmented extremities, swollen joints without hypermobility, wrinkled, dry, thin skin without [neurologyindia.com]

[…] excavatum Funnel chest 0000767 Peripheral arteriovenous fistula 0100784 Pneumothorax Collapsed lung 0002107 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short [rarediseases.info.nih.gov]

stature Mitral valve prolapse Vitiligo Cyanosis of the lips, fingernails and toenails in response to cold temperatures Gastrointestinal complications Postural orthostatic [blog.crowdmed.com]

Shwachman Syndrome

Shwachman syndrome - an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency, neutropenia, short stature, and skeletal changes [medical-dictionary.thefreedictionary.com]

Skeletal abnormalities and short stature are characteristics that can be used to support the diagnosis. [en.wikipedia.org]

stature, and skeletal changes. [medical-dictionary.thefreedictionary.com]

Glycogen Storage Disease Type 1

short stature. [en.wikipedia.org]

Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency. [ncbi.nlm.nih.gov]

Glycogen storage disease type 1A is characterized by short stature and accumulation of glycogen in the liver and kidneys with fatty deposition in the liver and kidneys. [xpertdox.com]

Glycogen Storage Disease Type 3

Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. [rarediseases.info.nih.gov]

stature growth retardation carniofacial anomalies midface hypoplasia deep-set eyes depressed nasal bridge broad upturned nasal tip bow-shaped lips thin vermillion border [humpath.com]

stature. [themedicalbiochemistrypage.org]

Osteogenesis Imperfecta Type 15

OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. [malacards.org]

Type III : This type is associated with severe fracture tendency, severe short stature, and progressive deformity and disability. [slideshare.net]

stature, and, in some patients, blue sclera. [malacards.org]

Mucopolysaccharidosis Type 4A

Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding. [medical-dictionary.thefreedictionary.com]

Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. [uniprot.org]

Niemann-Pick Disease Type B

We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period. [ncbi.nlm.nih.gov]

Other clinical features include: interstitial lung disease short stature with delayed skeletal maturation ocular abnormalities (cherry red maculae) hyperlipidemia (which can [radiopaedia.org]

stature Delayed bone age Intellectual disabilities Short stature PROGNOSIS Individuals with Niemann-Pick Disease Type A have onset of symptoms such as failing to gain weight [evolvegene.com]

Kabuki Syndrome

These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. [ncbi.nlm.nih.gov]

MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p = 0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously [ncbi.nlm.nih.gov]

The cause of this postnatal short stature remains unknown. [ncbi.nlm.nih.gov]

Coffin-Lowry Syndrome

Cof·fin-Low·ry syn·drome ( kof'ĭn low'rē ), [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers [medical-dictionary.thefreedictionary.com]

Individuals with Coffin-Lowry syndrome may have physical features such as large hands with short, thin fingers, short stature, small/underdeveloped upper jaw, prominent brow [ideas.org.au]

Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism [ncbi.nlm.nih.gov]

Mucolipidosis

Abstract The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility. [ncbi.nlm.nih.gov]

stature. [ncbi.nlm.nih.gov]

stature, developmental delay and other structural abnormalities. [ncbi.nlm.nih.gov]

Hidrotic Ectodermal Dysplasia

short stature Atrioventricular canal defect Hypoplastic left heart Thoracic hypoplasia Dextrocardia Emphysema Short thorax Hydroureter Hypoplastic toenails Cubitus valgus [mendelian.co]

Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome. [ncbi.nlm.nih.gov]

Short stature, mental deficiency (rare and not typically severe), clubbing of the digits and ocular issues (strabismus, cataracts, conjunctivitis, blepharitis, myopia) have [dermatologyadvisor.com]

Hereditary Multiple Exostoses

Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. [ncbi.nlm.nih.gov]

It is associated with short stature and asymmetrical growth at the knees and ankles, which may lead to deformities. [patient.info]

The most common deformities include short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the pectoral and pelvic girdles, bowing [ncbi.nlm.nih.gov]

Dysequilibrium Syndrome

stature. [ncbi.nlm.nih.gov]

RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature. [ncbi.nlm.nih.gov]

Additional features include short stature, strabismus, pes planus and, rarely, seizures. [uniprot.org]

Mucopolysaccharidosis Type 4

Abnormal curvature of the spine Cloudy cornea Heart murmur Hernia in the groin Enlarged liver Loss of nerve function below the neck Short stature (especially short trunk) [mountsinai.org]

short stature and joint problems. [study.com]

stature, wide teeth, heart and vision problems and a number of other complications. [nicklauschildrens.org]

Mucopolysaccharidosis Type 6

[virtualmedstudent.com] Entire body system Short Stature The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [symptoma.com]

The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. [orpha.net]

MPS VI causes various skeletal abnormalities, including short stature and joint deformities (contractures) that affect mobility. [malacards.org]

Mucopolysaccharidosis Type 1

Other causes of general learning disability and short stature. [patient.info]

This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions. [news-medical.net]

Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX. [neurology.testcatalog.org]

Mucopolysaccharidosis Type 1 H

Other causes of general learning disability and short stature. [patient.info]

The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and [rarediseases.about.com]

Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility. [patient.info]