Disproportionate Short Stature: Causes & Reasons

Possible Causes for Disproportionate Short Stature

It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. [ncbi.nlm.nih.gov]

Disproportionate short stature usually occurs after 18 months. [rarediseases.info.nih.gov]

short-trunk short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Hyperlordosis Prominent [rarediseases.info.nih.gov]

Rhizomelic Chondrodysplasia Punctata Type 2

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities [ncbi.nlm.nih.gov]

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, [ctgt.net]

short stature Failure to thrive IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is [ncbi.nlm.nih.gov]

Pelviscapular Dysplasia

Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... [kegg.jp]

[…] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia [mendelian.co]

[…] artery Proximal placement of thumb Limited elbow movement Biliary tract abnormality Ureteral duplication Diastasis recti Communicating hydrocephalus Anterior hypopituitarism Short [mendelian.co]

Spondylometaphyseal Dysplasia Type East African

Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening [familydiagnosis.com]

Disproportionate short stature 0003498 Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Genu varum Outward [rarediseases.info.nih.gov]

short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). [ncbi.nlm.nih.gov]

Acromesomelic Dysplasia Type Maroteaux

Patients/methods: Two siblings (Pt-A and Pt-B; consanguineous parents) presented in early childhood with severe disproportionate short stature and radiological features of [pubmed.ncbi.nlm.nih.gov]

short stature 0003498 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Frontal bossing 0002007 Hyperlordosis Prominent swayback 0003307 Joint hyperflexibility [rarediseases.info.nih.gov]

Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate [rarediseases.info.nih.gov]

Kyphomelic Dysplasia

short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. [diseaseinfosearch.org]

[…] characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of [rarediseases.info.nih.gov]

[…] and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. [orpha.net]

Desbuquois Dysplasia Type 1

Medical Term Other Names Description Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb [rarediseases.oscar.ncsu.edu]

[…] dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [rarediseases.oscar.ncsu.edu]

Severe Short Stature

In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion [ncbi.nlm.nih.gov]

Features include: Disproportionately short stature (short limbs or short trunk). [patient.info]

Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced [ncbi.nlm.nih.gov]

Familial Short Stature

This depends on the cause of the short stature. Disproportionate short stature (DSS) Disproportionate short stature (DSS) is linked to a genetic mutation. [medicalnewstoday.com]

Disproportionate Short Stature ( top ) Disproportionate short stature, commonly referred to as dwarfism, can manifest itself as short-limbed dwarfism or short-trunk dwarfism [hgfound.org]

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

Pseudoachondroplasia

Abstract Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset [ncbi.nlm.nih.gov]

Abstract Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis [ncbi.nlm.nih.gov]

Pseudoachondroplasia (PSACH) is a spondylo-epi-metaphyseal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, and precocious osteoarthritis [ncbi.nlm.nih.gov]

Achondroplasia

Abstract Achondroplasia is a human bone genetic disorder of the growth plate and is the most common form of inherited disproportionate short stature. [ncbi.nlm.nih.gov]

Abstract Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands. [ncbi.nlm.nih.gov]

Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs [biomarin.com]

Hypochondroplasia

Abstract Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. [ncbi.nlm.nih.gov]

stature in early childhood. [ncbi.nlm.nih.gov]

BACKGROUND: Hypochondroplasia (HCH; OMIM 146000) is a common autosomal dominant skeletal dysplasia characterized by disproportionate short stature, short extremities, relative [ncbi.nlm.nih.gov]

Aarskog-Scott Syndrome

Aarskog syndrome is characterised by a disproportionately short stature and facial, skeletal and urogenital anomalies ('shawl' scrotum and cryptorchidism). [ncbi.nlm.nih.gov]

Diagnosis is based on the recognition of the distinctive pattern of craniofacial anomalies, disproportionate short stature, characteristic urogenital anomalies and shortening [streetdirectory.com]

short stature Abnormalities of the head and face, including: Rounded face Wide-set eyes Slightly slanted eyes Drooping eyelids Small nose Front facing nostrils Mid-portion [knowyourdisease.com]

Mesomelic Dysplasia Type Langer

From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening [wikidata.org]

Moreover, the clinical phenotype of SHOX mutations varies strongly and may range from severe disproportionate short stature to mild short stature with or without anomalies [medical-genetics.de]

short stature with predominantly mesomelic limb shortening. [ashg.org]

SHOX-Related Short Stature

Disproportionate short stature In people with disproportionate short stature (DSS), the arms and legs are particularly short. [nhsdirect.wales.nhs.uk]

Individuals with SHOX -related short stature have disproportionate short stature and/or wrist abnormalities. [egl-eurofins.com]

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]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

short stature ; Dry skin ; Elbow dislocation ; Elbow flexion contracture ; Enlarged metaphyses ; Failure to thrive ; Femoral bowing ; Heterotopia ; Hip contracture ; Hip [mousephenotype.org]

short stature due to short limbs. [genome.jp]

They are disproportionately short statured due to short limbs. [eurekamag.com]

Spondylocarpotarsal Synostosis

short stature becoming apparent with physical growth. [orpha.net]

We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel [ncbi.nlm.nih.gov]

short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. [orpha.net]

Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

short stature and degenerative spine and hip disease. [ncbi.nlm.nih.gov]

The cases of four patients who had an unusual clinical entity of disproportionately short stature, referred to as spondyloepiphyseal dysplasia of Maroteaux, are described. [ncbi.nlm.nih.gov]

We report a family with an unusual form of autosomal dominant spondyloepiphyseal dysplasia characterized by infantile-onset disproportionate short stature with relative shortening [ncbi.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. [ncbi.nlm.nih.gov]

View the complete list with 7 more genes Specificity 4 % Genes 100 % Disproportionate Short Stature: Sequencing Panel. [mendelian.co]

View the complete list with 143 more genes Specificity 1 % Genes 100 % Disproportionate Short Stature: Deletion/Duplication Panel. [mendelian.co]

Leri-Weill Dyschondrosteosis

Conclusion: NPR2 mutations account for ~3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX [abstracts.eurospe.org]

Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionate short stature, Madelung deformity and other radiographic findings as [sajr.org.za]

Abstract Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterised by disproportionate short stature, with shortening of the middle (mesomelic) segments of [discovery.ucl.ac.uk]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Affiliating Genes 1 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 30 MalaCards organs/tissues related to Disproportionate Short Stature with Ptosis [malacards.org]

Causes of disproportionate short stature (limbs disproportionately short for trunk, or trunk disproportionately short for limbs) include skeletal dysplasias, osteogenesis [cmecorner.com]

a clinical diagnosis or family history of Leri-Weill or Madelung wrist deformity, disproportionate short stature with limbs shorter than trunk, bowing or shortening of the [endocrinologyadvisor.com]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff [malacards.org]

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck [ncbi.nlm.nih.gov]

short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay [orpha.net]

X-Linked Spondyloepimetaphyseal Dysplasia

short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. [malacards.org]

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. [monarchinitiative.org]

Anauxetic Dysplasia

People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. [elbiruniblogspotcom.blogspot.com]

short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. [diseaseinfosearch.org]

Bowing Congenital Short Bones Get Update Overview Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately [diseaseinfosearch.org]

Schimke Immunoosseous Dysplasia

Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in disproportionate short stature, nephropathy, and T-cell deficiency [allergynotes.blogspot.com]

Overview Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in disproportionate short stature, nephropathy, and T-cell [checkorphan.org]

The disproportionate short stature is the result of spondyloepiphyseal dysplasia. [moldiag.com]

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

short stature. [research.ed.ac.uk]

short-limb short stature ; Flat capital femoral epiphysis ; Frontal bossing ; Hypertelorism ; Intellectual disability ; Intellectual disability, progressive ; Kyphoscoliosis [mousephenotype.org]

[…] autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate [research.ed.ac.uk]

Mesomelic Dysplasia Type Savarirayan

short stature that is not associated with in utero or early neonatal death. [mhmedical.com]

Although all skeletal dysplasias involve disproportionately short stature, there are many other associated conditions. [encyclopedia.com]

short stature. [nature.com]

Platyspondyly

30% cases Mucopolysacchariduria Hip osteoarthritis Thoracic kyphosis Disproportionate short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal [mendelian.co]

[…] femoral neck Radial deviation of finger Abnormality of the metaphysis Hypermetropia Clinodactyly Upper limb undergrowth Hypoplastic iliac wing Disproportionate short stature [mendelian.co]

short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. [mendelian.co]

Spondyloepimetaphyseal Dysplasia Type Strudwick

Definition A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis [uniprot.org]

short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, [orpha.net]

Orpha Number: 93346 Disease definition Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very [rarediseases.info.nih.gov]

Thoracomelic Dysplasia

short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more [rarediseases.info.nih.gov]

short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873 16 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826 17 flat face 59 [malacards.org]

short stature Breech presentation Disproportionate short stature Stillbirth Short ribs Abnormality of the ribs Inguinal hernia Respiratory insufficiency Edema Nevus Abnormality [mendelian.co]