Proportionate-short-stature: Causes & Reasons

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Possible Causes for proportionate short stature

Hallermann-Streiff Syndrome

short stature. [orpha.net]

short stature, and dental anomalies. [ncbi.nlm.nih.gov]

Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature [ncbi.nlm.nih.gov]

Kenny-Caffey Syndrome Type 1

OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of [malacards.org]

short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes [mousephenotype.org]

Delayed closure of the anterior fontanelle ; Delayed skeletal maturation ; Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate [mousephenotype.org]

Seckel Syndrome

Abstract Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and [zora.uzh.ch]

A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short [dnatesting.uchicago.edu]

stature, clinically consistent with mild Seckel syndrome. [dnatesting.uchicago.edu]

Familial Short Stature

Proportionate short stature (PSS) is when the person is small, but all the parts are in the usual proportions. [medicalnewstoday.com]

They are proportionately short statured. [hgfound.org]

On the other hand, most genetic skeletal dysplasias are known for short stature that may be proportionate or disproportionate. [en.wikipedia.org]

Marchesani-Weill Syndrome

microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. [profiles.umassmed.edu]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

short stature, and pronounced microcephaly. [ncbi.nlm.nih.gov]

It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. [rgd.mcw.edu]

[…] dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate [ncbi.nlm.nih.gov]

3M Syndrome Type 1

Affected individuals typically have proportionately short stature, normal head circumference, typical facial features and limb length asymmetry that may result from hemihypotrophy [ncbi.nlm.nih.gov]

Affected individuals typically have proportionately short stature, normal head circumference, typical facial features, and limb-length asymmetry that may result from hemihypotrophy [doi.org]

Oculootoradial Syndrome

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 30%-79% of people have these symptoms [rarediseases.info.nih.gov]

Hearing defect [ more ] 0000365 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Severe short [rarediseases.info.nih.gov]

Bullous Dystrophy Type Macular

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger 0009381 X-linked inheritance 0001417 Showing of 14 Last updated: [rarediseases.info.nih.gov]

0000078 Percent of people who have these symptoms is not available through HPO Death in childhood 0003819 Hyperpigmentation of the skin Patchy darkened skin 0000953 Severe short [rarediseases.info.nih.gov]

Cystitis

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

96587 •Concept ID: C0432246 • Congenital Abnormality Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate [ncbi.nlm.nih.gov]

SHOX-Related Short Stature

Proportionate short stature People with proportionate short stature (PSS) grow very slowly and have a general lack of growth throughout the body. [nhsdirect.wales.nhs.uk]

There are 2 main types of restricted growth: proportionate short stature (PSS) – a general lack of growth in the body, arms and legs disproportionate short stature (DSS) – [nhs.uk]

[…] imperfecta (although they may have proportionate short stature if bone fragility leads to generalized fractures), and spinal irradiation. [cmecorner.com]

Laron Syndrome with Immunodeficiency

The child with proportionate short stature should be screened for organic, systemic and endocrine disorders. [karger.com]

GHI is characterized by severe but proportionate short stature as a result of growth failure that begins at birth. [rarediseases.org]

short stature External genital hypoplasia Keratitis Short long bone Lymphopenia Chronic diarrhea Abnormal lung morphology Wide mouth Thick eyebrow Pneumonia Adducted thumb [mendelian.co]

Lenz-Majewski Syndrome

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short palm 0004279 Specific learning disability 0001328 Symphalangism affecting the phalanges [rarediseases.info.nih.gov]

Prematurely aged appearance Precociously senile appearance 0007495 Redundant skin Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ] 0001582 Severe short [rarediseases.info.nih.gov]

Platyspondyly

short stature Absent nasal bridge Vertebral clefting Intervertebral space narrowing Broad phalanx Broad femoral neck Metaphyseal irregularity Mild myopia Sensorineural hearing [mendelian.co]

short stature Metaphyseal cupping Blue sclerae Proportionate short stature Genu varum Delayed skeletal maturation Cerebellar agenesis Vertebral compression fractures Hypoplasia [mendelian.co]

She had a mild, proportionate short stature. There was no facial dysmorphism apart from a mild proptosis and slightly blue sclerae. [karger.com]

Non-Syndromic Ocular Stickler Syndrome Type 1

On physical examination his weight, height, and head circumference were 22 kg (between 0 and 1 SD), 99 cm ( 3 SD proportionate short stature), and 47.8 cm ( 3 percentiles) [hindawi.com]

short stature, brachydactyly, and joint stiffness [20]. [rbht.nhs.uk]

TGFBR2 ENST00000359013.4 n/a Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate [rbht.nhs.uk]

Bangstad Syndrome

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] [rarediseases.info.nih.gov]

Pancytopenia Low blood cell count 0001876 Progressive cerebellar ataxia 0002073 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Severe short [rarediseases.info.nih.gov]

Laron Syndrome

Clinical hyposomatotropism manifested by proportionate short stature, delayed bone age, limited elbow extension, and hip degeneration. [accessanesthesiology.mhmedical.com]

A dictionary of medical eponyms Related people Zvi Laron Syndrome of severe pituitary (hypophyseal) dwarfism which presents as proportionate short stature. [whonamedit.com]

The child with proportionate short stature should be screened for organic, systemic and endocrine disorders. [doi.org]

Coxoauricular Syndrome

short stature Coxa vara Thoracic kyphosis Hypoplasia of the odontoid process Anemia Multiple enchondromatosis Lymphangioma Chondrosarcoma Visceral angiomatosis Abnormality [mendelian.co]

2010). (615155) MalaCards based summary : Steel Syndrome, also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature, is related to [malacards.org]

[…] the fibula Unilateral ulnar hypoplasia Postaxial oligodactyly Flat capital femoral epiphysis Delayed skeletal maturation Epiphyseal dysplasia Irregular vertebral endplates Proportionate [mendelian.co]

Autosomal Recessive Spinocerebellar Ataxia 8

A form (OMIM:610743) of spinocerebellar ataxia characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic [medical-dictionary.thefreedictionary.com]

Rothmund-Thomson Syndrome

short stature, hypogonadism, anaemia and osteogenic sarcoma. [ncbi.nlm.nih.gov]

short stature, may have small hands and feet, hypoplastic to absent thumbs, syndactyly, club foot; • Genitourinary/gastrointestinal: hypogonadism, cryptorchidism. [tandfonline.com]

PHENOTYPE_AND_CLINICS - juvenile cataract, corneal dystrophy (50%) - hypodontia - hypogonadism (25%) - proportionate short stature - premature aging Detailed definition of [atlasgeneticsoncology.org]

Cystocele

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

Hypochondroplasia

However, a substantial number of patients with proportionate short stature presented at an older age with the same radiologic characteristics and failure of the puberty growth [ncbi.nlm.nih.gov]

Some children who present with proportionate short stature and hypochondroplasia fail to increase their growth rate at puberty, although the growth spurt can be restored by [ncbi.nlm.nih.gov]

Losekoot, A novel variant of FGFR3 causes proportionate short stature, European Journal of Endocrinology, 10.1530/EJE-14-0945, 172, 6, (763-770), (2015). [doi.org]

Autosomal Recessive Deafness 46

She showed proportionate short stature with a height of 129.6 cm ( 3.1 S.D. ) and exhibited hearing difficulty at school medical check-up. [abstracts.eurospe.org]

Method: The patient was referred to our hospital due to short stature at the age of 12 years old. [abstracts.eurospe.org]

Mucopolysaccharidosis Type 2

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short neck Decreased length of neck 0000470 Split hand Claw hand Claw hand deformities Claw [rarediseases.info.nih.gov]

0002870 Pes cavus High-arched foot 0001761 Ptosis Drooping upper eyelid 0000508 Recurrent otitis media Recurrent middle ear infection 0000403 Scaphocephaly 0030799 Severe short [rarediseases.info.nih.gov]

SHORT Syndrome

Proportionate short stature (PSS) is when the person is small, but all the parts are in the usual proportions. [medicalnewstoday.com]

stature Dwarfism Proportionate dwarfism Short stature, severe [2] Last updated: 3/7/2016 There is no formal criteria for diagnosis yet. [rarediseases.info.nih.gov]

This is known as proportionate short stature (PSS). If the individual is heavy for their height, this can suggest a hormone problem. [medicalnewstoday.com]

Growth Hormone Deficiency

The workup for proportionate short stature revealed isolated growth hormone deficiency. [ncbi.nlm.nih.gov]

Proportionate short stature J91 J 14/M 2.5 Pubic hair Tanner 2 2 C64G Polymorphism; father has the same mutation and normal height ( 0.4 sd score) A1 G 4/F 3.0 Prepubertal [doi.org]

stature ( 2.3 sd score) NS G 3/F 3.2 Prepubertal 2 C37T ? [doi.org]

Joint Subluxation

A dictionary of medical eponyms Related people Zvi Laron Syndrome of severe pituitary (hypophyseal) dwarfism which presents as proportionate short stature. [whonamedit.com]

Noonan Syndrome

Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most commonly pulmonic [ncbi.nlm.nih.gov]

Symptoms are variable and range from facial dysmorphia (broad forehead, hypertelorism, low ears and outward-sloping eyelid axis), proportionate short stature, pterygium colli [medical-genetics.de]

Abstract Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most commonly [oadoi.org]

Spinocerebellar Ataxia Type 5

A form of spinocerebellar ataxia (OMIM:606937) characterised by developmental delay, psychomotor retardation, proportionate short stature, spastic ataxia, microcephaly, optic [medical-dictionary.thefreedictionary.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [rarediseases.info.nih.gov]

Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis Drooping upper eyelid 0000508 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe short [rarediseases.info.nih.gov]