Proportionate Short Stature: Causes & Reasons

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Possible Causes for Proportionate Short Stature

Hallermann-Streiff Syndrome

The patient presents with a proportionate short stature and dyscephaly with a beak shaped nose. CONCLUSIONS. [aaopt.org]

short stature. [unboundmedicine.com]

[…] e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate [orpha.net]

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]

Teebi-Naguib-Al Awadi Syndrome

Proportionate short stature MedGen UID: 163901 •Concept ID: C0878660 • Finding A kind of short stature in which different regions of the body are shortened to a comparable [ncbi.nlm.nih.gov]

stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib (rare) Head And Neck Mouth: narrow [malacards.org]

[…] clinodactyly interdigital webbing more Head And Neck Neck: long neck Head And Neck Teeth: malocclusion abnormal teeth Chest External Features: sloping shoulders Growth Height: short [malacards.org]

Short Stature and Facio-Auriculo-Thoracic Malformations

[…] neck Head And Neck Head: microcephaly Cardiovascular Heart: ventricular septal defect Growth Height: short stature, proportionate [malacards.org]

[…] thumb Mitral regurgitation High myopia Limitation of joint mobility Visual loss Glaucoma Intellectual disability, mild Cataract Truncus arteriosus Uveitis Proportionate short [mendelian.co]

[…] pectus carinatum (superiorly) pectus excavatum (inferiorly) Skeletal Spine: l5-s1 fusion sagittal cleft of vertebral body of l5 abnormal odontoid peg Head And Neck Neck: short [malacards.org]

Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

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]

Most individuals with disproportionate short stature have skeletal dysplasias, and those with proportionate short stature have endocrine, nutritional, or other genetic or [nature.com]

The presence of short roots may or may not be associated with short stature which when present can be either proportionate or disproportionate. [indjos.com]

Familial Short Stature

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

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

They are proportionately short statured. [hgfound.org]

Marchesani-Weill Syndrome

short stature. [profiles.umassmed.edu]

[…] disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate [profiles.umassmed.edu]

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]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

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

It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. ( 2 ) References: ICD10CM:Q87.1 OMIM:210720 ORDO:2637 Ontology [zfin.org]

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]

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]

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]

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short finger Stubby finger Stubby fingers [ more ] 0009381 X-linked inheritance 0001417 Showing [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]

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]

Coxoauricular Syndrome

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

stature, is related to dwarfism, proportionate, with hip dislocation and myelomeningocele. [malacards.org]

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

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

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

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

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

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]

Leri Pleonosteosis

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Thickened skin Thick skin 0001072 Upslanted palpebral fissure Upward slanting of the opening [rarediseases.info.nih.gov]

] 0001288 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Lack of skin elasticity 0100679 Severe short [rarediseases.info.nih.gov]

Pelviscapular Dysplasia

A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. [nectarmutation.org]

short stature Increased number of teeth Aplasia/Hypoplasia of the thumb Absent thumb Basal cell carcinoma Squamous cell carcinoma Pyloric stenosis Dermal atrophy Neoplasm [mendelian.co]

SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. [ read more ] 12134148 SRCAP causing FLHS 136140 The disease is caused [nectarmutation.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]

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]

Spondyloepiphyseal Dysplasia Type Kimberley

[…] thorax Spondyloepiphyseal dysplasia congenita Growth abnormality Proportionate short stature Short stature Source: GTR (NCBI/NIH) 1 • • • Back to: « Spondyloepiphyseal dysplasia [familydiagnosis.com]

short stature (< 5th percentile for age), stocky habitus and progressive degenerative osteoarthropathy of weight-bearing joints. [newmedicalterms.com]

Clinical description The main clinical features may include proportionate short stature ( Etiology SEDK is caused by mutation in the aggrecan gene ( AGC1, locus 15q26.1). [orpha.net]

3M Syndrome Type 3

Short Stature Mohammed S. [nature.com]

short stature. [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 [nature.com]

Seckel Syndrome Type 2

short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [rarediseases.info.nih.gov]

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

Desbuquois Dysplasia

Patellar dislocation Dislocated kneecap 0002999 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 30%-79% of people have these symptoms [rarediseases.info.nih.gov]

stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Glaucoma 0000501 Joint hyperflexibility Joints move beyond expected range of motion 0005692 [rarediseases.info.nih.gov]

[…] underdeveloped abdominal wall muscles [ more ] 0010318 Bell-shaped thorax 0001591 Camptodactyly of finger Permanent flexion of the finger 0100490 Disproportionate short-limb short [rarediseases.info.nih.gov]

Spondyloepimetaphyseal Dysplasia Type Shohat

stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short femur Short thighbone 0003097 Short iliac bones Short pelvis bones 0100866 Short neck [rarediseases.info.nih.gov]

0002938 Metaphyseal widening Broad wide portion of long bone 0003016 Micromelia Smaller or shorter than typical limbs 0002983 Platyspondyly Flattened vertebrae 0000926 Severe short [rarediseases.info.nih.gov]

3M Syndrome

short stature. [em-consulte.com]

S. et al. 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. J. Pediatr. 161, 139–45.e1 (2012). Article Google Scholar 11. [nature.com]

Study design We conducted a case series of patients referred to clinical genetics for proportionate short stature. [em-consulte.com]

Congenital Disorder of Glycosylation Type 1G

Examination showed the presence of proportionate short stature, height measuring 73 cm (<3rd centile), weight 10 kg (<3rd centile), and head circumference 47 cm (at 3rd centile [hindawi.com]