Rhizomelic Limb Shortening Causes & Reasons

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Rhizomelic Limb Shortening Symptom Checker: Possible causes include Rhizomelic Chondrodysplasia Punctata Type 2. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Rhizomelic Chondrodysplasia Punctata Type 2

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

Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling. 2005 S. [karger.com]

Skeletal abnormalities include chondrodysplasia punctata, asymmetrical rhizomelic limb shortening, scoliosis, and hexadactyly. [humpath.com]

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Pseudoachondroplasia

Disproportionate short stature is characterized by shortening of proximal limb segments (humeri and femora) also called rhizomelic shortening. [en.wikipedia.org]

Many unique skeletal radiographic abnormalities of patients with pseudoachondroplasia have been reported in the literature. [2] [7] [4] Together with rhizomelic limb shortening [en.wikipedia.org]

Patients with pseudoachondroplasia present with gait abnormalities, lower limb deformity, or a retarded growth rate that characteristically appear at age 2–3 years. [en.wikipedia.org]

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Achondroplasia

[…] bowing : general differential for (lower) limb bowing rhizomelic dwarfism : general differential for rhizomelic limb shortening Promoted articles (advertising) [radiopaedia.org]

limb shortening 4 Cervical spine instability ML 2 Select Answer to see Preferred Response PREFERRED RESPONSE 4 (OBQ06.226) Achondroplasia results from abnormal chondrocyte [orthobullets.com]

[…] metaphyseal flaring 8 : can give a trumpet bone type appearance the femora and humeri are particularly shortened ( rhizomelic shortening ) long fibula: the fibular head is [radiopaedia.org]

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Chondrodysplasia Punctata

Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling. [ncbi.nlm.nih.gov]

Abstract We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures [ncbi.nlm.nih.gov]

There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening [medical-dictionary.thefreedictionary.com]

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Rhizomelic Chondrodysplasia Punctata Type 1

limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures. [ctgt.net]

Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling. 2005 S. [karger.com]

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Cystitis

shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. [ncbi.nlm.nih.gov]

[…] type MedGen UID: 355563 •Concept ID: C1865832 • Disease or Syndrome Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic [ncbi.nlm.nih.gov]

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Rhizomelic Chondrodysplasia Punctata Type 3

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

Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling. 2005 S. [karger.com]

Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. [emedicine.medscape.com]

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Pallister-Killian Syndrome

limb shortening, facial anomalies and, rarely, acral hypoplasia. [ncbi.nlm.nih.gov]

Rhizomelic limb shortening, diaphragmatic hernia, thickened nuchal fold, increased prenasal thickness, polydactyly and polyhydramnios were frequent and distinctive findings [ncbi.nlm.nih.gov]

limb shortening It is a polymalformative complex with tetrasomy of isochromosome 12p although many cases are mosaic. [radiopaedia.org]

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Platyspondyly

limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced [mendelian.co]

Atelosteogenesis type 2 MedGen UID: 338072 • Concept ID: C1850554 • Disease or Syndrome Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening [ncbi.nlm.nih.gov]

Moderate platyspondyly has been described with enlarged but shortened ribs and an irregular iliac crest. Rhizomelic shortening of the limbs is common. [disorders.eyes.arizona.edu]

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Hypochondroplasia

Doctor's response Hypochondroplasia is a type of short-limb dwarfism with shortening especially of the ends of the limbs (termed rhizomelic dwarfism). [medicinenet.com]

The short stature and limb shortening can be mild. [medicinenet.com]

The diagnosis is often made at 2-4 years of age when the child falls off the growth curve and the rhizomelic shortening is noted. Diagnosis is made by exam and X-rays. [medicinenet.com]

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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]

Short limb skeletal dysplasias are skeletal dysplasias which are characterized by limb shortening Classification Rhizomelic (proximal limb shortening) hypochondroplasia achondroplasia [radiopaedia.org]

There was marked rhizomelic and mesomelic shortening of all limbs (fig 3 ). [jmg.bmj.com]

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Dyggve-Melchior-Clausen Syndrome

Rhizomelic limb shortening is an accompanying feature. [symptoma.com]

The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. [genome.jp]

age 12, showed marked genu valgus, muscular wasting, hypenextensibility of knees, and deformity of the elbow joint with rhizomelic shortening of arm and Presented as the [healthdocbox.com]

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Skeletal Dysplasia

Abstract We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles [ncbi.nlm.nih.gov]

Limb deficiencies amelia: complete limb absence meromelia: partial limb absence Limb shortening/dysplastic See: short limb skeletal dysplasias Rhizomelic dwarfism Rhizomelic [radiopaedia.org]

Their mother has mild rhizomelic shortening of the limbs, brachydactyly, and severe myopia. [ncbi.nlm.nih.gov]

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Cystocele

shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. [ncbi.nlm.nih.gov]

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Spondylometaphyseal Dysplasia Type Kozlowski

The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after [ncbi.nlm.nih.gov]

limb shortening TAS TAS OMIM:250220 SKOEHLER 20.06.2010 OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0003021 Metaphyseal cupping TAS TAS OMIM:250220 HPO [sourceforge.net]

DYSPLASIA, SEDAGHATIAN TYPE HP:0002869 Flared iliac wings TAS TAS OMIM:250220 HPO:probinson 17.02.2009 OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE HP:0002968 Rhizomelic [sourceforge.net]

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Fibrochondrogenesis

Fibrochondrogenesis is an autosomal recessive lethal short- limbed skeletal dysplasia. Severe micromelia. Rhizomelic limb shortening. [fetalultrasound.com]

Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar [icd9data.com]

The short limbs noted in fibrochondrogenesis are in a proximal or rhizomelic pattern. [ncbi.nlm.nih.gov]

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Autosomal Dominant Chondrodysplasia Punctata

Also, this is the first report of severe rhizomelic limb shortening, and bilateral cataracts prior to the recognization of epiphyseal stippling. 2005 S. [karger.com]

[…] on chondrodysplasia punctata Type: Term Definitions: 1. a developmental disorder characterized by epiphysial stippling, coronal clefting of the vertebrae, dwarfism with rhizomelic [encyclo.co.uk]

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Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

Figure 7 Left upper limb at 4 years 8 months. There is rhizomelic shortening. [jmg.bmj.com]

limb shortening, microcephaly, a coarse face and variable mental retardation. [kundoc.com]

There was rhizomelic and mesomelic shortening of her upper and lower limbs (fig 1 ). [jmg.bmj.com]

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Humero-Radial Synostosis

limb shortening, and a distinctive craniofacial appearance, including high broad forehead and frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed [cags.org.ae]

Peromelia involving the upper limbs (HP:0009814) 22.1.9 Rhizomelia of upper limbs Rhizomelic shortening HP:0002968 - 22.1.10 Proportionate short arms - - There are a number [compbio.charite.de]

[…] recessive Gene Map Locus Not Mapped Humeroradial Synostosis with Craniofacial Anomalies is an extremely rare skeletal condition characterized by humero-radial synostosis, rhizomelic [cags.org.ae]

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Ellis-Van Creveld Syndrome

This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and [ncbi.nlm.nih.gov]

We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. [ncbi.nlm.nih.gov]

The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity), small feet with postaxial polydactyly, syndactyly between the second and [ncbi.nlm.nih.gov]

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Coxa Vara

Moderate platyspondyly has been described with enlarged but shortened ribs and an irregular iliac crest. Rhizomelic shortening of the limbs is common. [disorders.eyes.arizona.edu]

shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. [ncbi.nlm.nih.gov]

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High Myopia-Sensorineural Deafness Syndrome

Birth length was 44 cm, with rhizomelic shortening of the lower limbs. [genome.jp]

]; Rhizomelic limb shortening (infancy); Dumbbell widening of long bone metaphyses, especially femurs and humeri; Enlarged epiphyses NEUROLOGIC: [Central nervous system]; [genome.jp]

[…] nose; [Mouth]; Cleft palate; Pierre-Robin sequence SKELETAL: [Spine]; Vertebral coronal clefts; [Pelvis]; Bulbous deformity of ischial and pubic bone; Broad iliac wings; [Limbs [genome.jp]

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Mesomelic Dysplasia Type Savarirayan

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Humero-Ulnar Synostosis

limb shortening, and a distinctive craniofacial appearance, including high broad forehead and frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed [cags.org.ae]

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Auriculoosteodysplasia

Rhizomelic limb shortening ; clubfoot; atlantoaxial instability; lumbar scoliosis ; platyspondyly ; multiple interphalangeal and metacarpophalan-geal joint dislocations; normal [rrnursingschool.biz]

Rhizomelic shortening of the limbs, severe clubfoot deformity, and atlantoaxial instability are common to both conditions. [rrnursingschool.biz]

There are a relatively large cranium, flat face with micrognathia, small thorax, prominent abdomen, rhizomelic limb shortening and bowing, abnormal hands, and clubfeet. b [rrnursingschool.biz]

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Atelosteogenesis Type 2

CLINICAL CHARACTERISTICS: Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant [ncbi.nlm.nih.gov]

Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate [ncbi.nlm.nih.gov]

C: Lower limb ndings include severe lower limb shortening, exed knees with contractures, and anequinovarus position of the feet.620 AMERICAN JOURNAL OF MEDICAL GENETICS PART [docslide.com.br]

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Robinow Syndrome

The patient had a short stature [Figure 1] a and his skeletal findings revealed that the patient had mesomelic as well as rhizomelic limb shortening, indicative of dwarfism [contempclindent.org]

Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. [ncbi.nlm.nih.gov]

Note rhizomelic shortening of limbs, disproportionately short stature, enlarged joints, and contractures. [emedicine.medscape.com]

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Prata-Libéral-Gonçalves Syndrome

limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced [mendelian.co]

SMITH-MCCORT DYSPLASIA 2; SMC2 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic [mendelian.co]

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Hydronephrosis

shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular [ncbi.nlm.nih.gov]

[…] distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic [ncbi.nlm.nih.gov]

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Autosomal-Recessive Robinow Syndrome

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