Short Trunk: Causes & Reasons

Possible Causes for Short Trunk

Spondylometaphyseal Dysplasia Type Kozlowski

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular [rarediseases.info.nih.gov]

[…] stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period [ncbi.nlm.nih.gov]

Photographs of the second sibling pair showing (A) short-trunk dwarfism, (B) compressed root of the nose, and (C) genu valgum. [healio.com]

Spondylocostal Dysostosis

Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and [ncbi.nlm.nih.gov]

A dominantly inherited form of short-trunked dwarfism". Am J Med. 45 (6): 948–53. doi : 10.1016/0002-9343(68)90193-9. [wikidoc.org]

This syndrome is usually diagnosed in newborns with short neck and trunk and short stature. [ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia (SED) is a rare heterogenous form of chondrodysplasia characterized by congenital dwarfism with a short trunk and epiphyseal dysplasia in the [valleyinternational.net]

Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia [ncbi.nlm.nih.gov]

The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a [ncbi.nlm.nih.gov]

Congenital Scoliosis due to Bony Malformation

A brother and a sister affected with brachyolmia (short trunk) are reported. [ncbi.nlm.nih.gov]

AR brachyolmia, Hobaek/Toledo type is characterized by short-trunked short stature with platyspondyly and scoliosis. [rarediseases.info.nih.gov]

Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio. [ncbi.nlm.nih.gov]

Platyspondyly

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [read.qxmd.com]

Pathology by systems > Locomotory system > Bones > non-short-trunk chondrodysplasia with platyspondyly Thursday 16 November 2006 Types achondroplasia thanatophoric dysplasia [humpath.com]

Affected individuals may be relatively tall despite the presence of a short trunk. [mendelian.co]

Dyggve-Melchior-Clausen Syndrome

Morquio-Brailsford syndrome, or mucopolysaccharidosis IV-A, is an uncommon storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated [whonamedit.com]

Koppers Medicine RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin 1979 An 13-year-old mentally normal boy with short-trunked dwarfism is discribed [semanticscholar.org]

Abstract The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 4

Most patients are normal at birth and then begin to display growth retardation with a short trunk and neck. [themedicalbiochemistrypage.org]

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]

Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu [genedx.com]

Spondylocarpotarsal Synostosis

We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral [ncbi.nlm.nih.gov]

There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar. [ncbi.nlm.nih.gov]

Spondylocarpotarsal synostosis syndrome (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation [ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

Abstract Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked [ncbi.nlm.nih.gov]

A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic [ncbi.nlm.nih.gov]

We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. [ncbi.nlm.nih.gov]

Kniest Dysplasia

Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and [ncbi.nlm.nih.gov]

Kniest dysplasia A rare subtype of collagenopathy (types II and XI) characterised by defective bone growth with short-trunk, short-limb dwarfism, painful enlarged joints leading [medical-dictionary.thefreedictionary.com]

Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus [medical-dictionary.thefreedictionary.com]

Mucopolysaccharidosis Type 4A

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Epiphyseal deformities of tubular [rarediseases.info.nih.gov]

Chondroitin sulfate excretion in urine 0012070 Coarse facial features Coarse facial appearance 0000280 Constricted iliac wings 0003277 Coxa valga 0002673 Disproportionate short-trunk [rarediseases.info.nih.gov]

X-Linked Spondyloepimetaphyseal Dysplasia

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flared iliac wings 0002869 Flat [rarediseases.info.nih.gov]

The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. [ncbi.nlm.nih.gov]

Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone [uniprot.org]

Spondyloepimetaphyseal Dysplasia Type Strudwick

The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue Symptoms - Strudwick syndrome * Short trunk * Short extremities [checkorphan.org]

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen normal IQ spine [radiopaedia.org]

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]

Spondyloepiphyseal Dysplasia Type Cantú

Key Points “Jarcho–Levin” syndrome refers to a group of conditions characterized by short trunk dwarfism, rib and vertebral anomalies, and normal long bones. [obgyn.mhmedical.com]

Clinical description Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial [orpha.net]

The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. [ncbi.nlm.nih.gov]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

We describe an affected newborn with dysmorphic facial features and severe short trunk. [ncbi.nlm.nih.gov]

[…] stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral [malacards.org]

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

Progressive Pseudorheumatoid Dysplasia

All patients developed short stature with height below the 3rd percentile and an abnormally short trunk, mainly due to vertebral dysplasia which became apparent during elementary [acrabstracts.org]

Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. [amrita.edu]

[…] stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. [mendelian.co]

Chondrodystrophy

There are two types of skeletal dysplasia: Type 1 consists of a long trunk & short limbs & Type 2 is made up of a short trunk & normal-sized extremeties. [signssymptoms.org]

Type 2, short-trunk dysplasia, is characterised by a shortened trunk and normal size extremities. [en.wikipedia.org]

Anthropometric measurements are of particular significance for determining the type of disproportionate short-stature, short-limb versus short-trunk. [doi.org]

Achondrogenesis

·chon·dro·gen·e·sis ( ā-kon'drō-jen'ĕ-sis ), Neonatal lethal dwarfism characterized by severe bone dysplasia of all four limbs, micromelia, enlarged cranium, and a short trunk [medical-dictionary.thefreedictionary.com]

[…] barrel-shaped chest short trunk short ribs horizontal ribs normal clavicles distended abdomen enlarged calvaria with normal ossification absent vertebral body mineralization [humpath.com]

The father had scoliosis as a child, and has slight body disproportion with short trunk. The first child was born at 32 weeks and died neonatally. [ncbi.nlm.nih.gov]

Achondrogenesis Type 1B

[…] barrel-shaped chest short trunk short ribs horizontal ribs normal clavicles distended abdomen enlarged calvaria with normal ossification absent vertebral body mineralization [humpath.com]

short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Disproportionate short-trunk short stature Disproportionate short-trunked dwarfism [rarediseases.info.nih.gov]

Achondrogenesis Type 2

Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium. [mhmedical.com]

Severe Short Stature

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [ncbi.nlm.nih.gov]

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

The fetuses with skeletal dysplasia were subdivided into two groups based on the specific diagnosis: skeletal dysplasias with a short trunk and skeletal dysplasias with a [ncbi.nlm.nih.gov]

Ulna Metaphyseal Dysplasia Syndrome

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

Photographs of the second sibling pair showing (A) short-trunk dwarfism, (B) compressed root of the nose, and (C) genu valgum. [healio.com]

Arthrogryposis: no dwarfism, no epi-metaphseal involvement, no ear deformity and hitchhiker thumb SED: short-trunk dwarfism with stiff hips and often cleft palate and clubfoot [gait.aidi.udel.edu]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Top matches: Medium match SMITH-MCCORT DYSPLASIA 2; SMC2 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with [mendelian.co]

[…] stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. [mendelian.co]

Presentation [ edit ] People with this condition are short-statured from birth, with a very short trunk and shortened limbs. [en.wikipedia.org]

Dappled Diaphyseal Dysplasia

Classification Chondrodysplasias (ostechondrodysplasias with defects of the tubular bones or axial skeleton) short-trunk chondrodysplasias achondrogenesis hypochondrogenesis [humpath.com]

short stature Hypoplastic ilia Disproportionate short-trunk short stature Horizontal ribs Stillbirth Camptodactyly of finger Posterior rib cupping Anencephaly Median cleft [mendelian.co]

[…] than normal for their age usually have short trunks. [musculoskeletalkey.com]

Wolcott-Rallison Syndrome

There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. [jisppd.com]

Dwarfing conditions are frequently referred to as short-limb or short-trunk types, according to whether the limbs or trunk is more extensively involved. [jisppd.com]

SED, metatropic dysplasia, and Kniest syndrome are considered short-trunk dwarfing conditions. [jisppd.com]

Hypochondrogenesis

Affected infants had a short trunk, extreme micromelia, and a disproportionately large cranium. [mhmedical.com]

Achondrogenesis is a rare and severe group of genetic disorders that results in a short trunk, small limbs, and a narrow chest. [healthline.com]

[…] limbs, short trunk, prominent abdomen, macrocephaly, and anasarca. [codelay.com]

Parastremmatic Dwarfism

[…] dwarfism in which affected persons are born with a normal or long thorax but eventually develop kyphoscoliosis with a short trunk. [medical-dictionary.thefreedictionary.com]

Affected children show mental retardation, short trunk dwarfism, microcephaly, thoracolumbar kypholordosis, restricted joint motion, clawed fingers, and a waddling gait. [rrnursingschool.biz]

trunk dwarfism, scoliosis, microcephaly and limb deformities), facial dysmorphism and intellectual disability. [1], [2] Radiological findings are characterized by short hand [ijpm.info]

Klinefelter Syndrome with XY/XXY Mosaic

trunk). [genome.gov]

Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size) Abnormally large breasts ( gynecomastia ) Infertility [mountsinai.org]

[…] small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short [genome.gov]

Schimke Immunoosseous Dysplasia

short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Glomerulopathy 0100820 Hip dislocation [rarediseases.info.nih.gov]

The patients have intrauterine growth retardation, short stature with short neck and trunk, peculiar clinical phenotype: triangular face, broad nasal bridge, bulbous nasal [scholars.duke.edu]

He had short stature with a short neck and trunk (fig 1 ) and normal development. [jmg.bmj.com]

Achondroplasia

They're divided into two types: short-trunk and short-limb dwarfism. [kidshealth.org]

Other skeletal dysplasias can cause short-trunk disorders and proportionate short stature. [betterhealth.vic.gov.au]

Some cause more shortening of the limbs than the trunk (short-limbed dwarfism), whereas others cause more shortening of the trunk than the limbs. [msdmanuals.com]