Prenatal and Postnatal Short Stature & Skeletal Dysplasia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Prenatal and Postnatal Short Stature, Skeletal Dysplasia,

Negated

None

Unsure

None

Possible Causes

Familial Short Stature

short stature. [ncbi.nlm.nih.gov]

Thanatophoric dysplasia It is the most common lethal skeletal dysplasia in the neo‐natal period. [intechopen.com]

Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism. [ncbi.nlm.nih.gov]

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Bloom Syndrome

These patients often have prenatal or postnatal growth retardation, short stature, malar hypoplasia, telangiectatic erythema of the face and other regions, hypo- and hyperpigmentation [mayomedicallaboratories.com]

[…] syndrome Camptodactyly joint contractures and facial skeletal dysplasia Camptodactyly syndrome Guadalajara type 1 Camptodactyly syndrome Guadalajara type 2 Camptodactyly [personalizedcause.com]

CHST3 -Related Skeletal Dysplasia Andrea Superti-Furga and Sheila Unger. Initial Posting: September 1, 2011; Last Update: January 31, 2019. [ncbi.nlm.nih.gov]

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Coxa Vara

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

Abstract Coxa vara can be a progressive deformity in children with skeletal dysplasia. [ncbi.nlm.nih.gov]

Ten of the children had unilateral hip disease and were otherwise normal while four had bilateral hip disease due to generalised skeletal dysplasias. [ncbi.nlm.nih.gov]

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Skeletal Dysplasia

When presented with a patient that may have a skeletal dysplasia, the following must be performed: (a) Clinical evaluation: assessment of disproportionate short stature (prenatal [analesdepediatria.org]

DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL [doi.org]

Patients with 3-M syndrome present with marked prenatal and postnatal growth restriction, proportionate short stature with final height four to six standard deviations below [invitae.com]

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Russell-Silver Syndrome

Systematic testing of cases suspected prenatally or postnatally would be informative regarding the individual contribution of each factor. [ncbi.nlm.nih.gov]

Other etiologies are chronic diseases (10%), syndromic disorders (6%), chromosomal abnormalities (5%), skeletal dysplasias (1%) and growth hormone deficiency or receptor insensitivity [elsevier.es]

A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations. Clin Genet. 1986 Jan; 29 (1):83–87. [ PubMed ] [ Google Scholar ] Adeyokunnu AA. [ncbi.nlm.nih.gov]

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Turner Syndrome

[…] counseling and management after the diagnosis was made either prenatally or postnatally. [doi.org]

dysplasia. [magicfoundation.org]

"Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias." [en.wikipedia.org]

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3M Syndrome Type 1

In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism [scienceopen.com]

Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. [ncbi.nlm.nih.gov]

Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia, constitutional disorders of bone, nosology, classification, nomenclature In: Osteologický [cps.lf1.cuni.cz]

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Kenny-Caffey Syndrome Type 1

[…] and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to [malacards.org]

Hereditary skeletal dysplasia resulting in proportionate dwarfism characterized by thickening of the inner corticalis and stenosis of the medullary cavities of the tubular [accessanesthesiology.mhmedical.com]

During the course of his fellowship, he initiated positional cloning studies of an autosomal recessive skeletal dysplasia, the Kenny-Caffey Syndrome (KCS), using eight consanguineous [grantome.com]

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Coxa Valga

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

dysplasias, and juvenile idiopathic arthritis. [medbox.iiab.me]

The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis [webuildmachines.com]

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Spondylometaphyseal Dysplasia Type Kozlowski

DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones. [musculoskeletalkey.com]

The findings demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant [ncbi.nlm.nih.gov]

skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; Jequier Kozlowski skeletal dysplasia See More Categories [rarediseases.info.nih.gov]

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Diastrophic Dysplasia

There may be additional disorders that are characterized by growth delays before and after birth (prenatal and postnatal growth retardation); abnormally short arms and legs [peachynay.tripod.com]

Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques. [ncbi.nlm.nih.gov]

Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. [ncbi.nlm.nih.gov]

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Williams-Beuren Syndrome

[…] and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. [rarediseases.org]

Syndrome WMS General Discussion Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal [rarediseases.org]

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Hypochondroplasia

Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs. [ncbi.nlm.nih.gov]

A short-limb skeletal dysplasia was diagnosed prenatally at 35 weeks of gestation. After birth the infant was found to have hypochondroplasia. [ncbi.nlm.nih.gov]

Test Name Skeletal Dysplasias: Hypochondroplasia Alternate Name/ Synonym HCH Hypochondrodysplasia Gene Name FGFR3 Test Code HYPCH Division Molecular Genetics Method Targeted [sickkids.ca]

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Platyspondyly

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. [unboundmedicine.com]

We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia. [read.qxmd.com]

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Mesomelic Dysplasia Type Langer

Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or [karger.com]

Thanatophoric dysplasia and achondrogenesis account for 62% of all lethal skeletal dysplasias. Achondroplasia is the most common non-lethal skeletal dysplasia. [patient.info]

Welcome to the European Skeletal Dysplasia Network ESDN provides an integrated research and diagnostic network for skeletal dysplasias. [esdn.org]

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Wolf-Hirschhorn Syndrome

Short stature and slow weight gain is common postnatally. Central nervous system Neurologic concerns are common and include the following. [emedicine.medscape.com]

Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose. [emedicine.medscape.com]

There are some skeletal features like kyphosis, scoliosis, hemi vertebrae, dysplasia or displacement of the hip, abnormal implantations of hallux and thumb. [scielo.iec.gov.br]

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Progressive Pseudorheumatoid Dysplasia

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [mendelian.co]

dysplasia or a multidisciplinary skeletal dysplasia clinic every year Agents/Circumstances to Avoid Avoid immobilization (e.g., casting). [ncbi.nlm.nih.gov]

dysplasia. [termedia.pl]

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Schneckenbecken Dysplasia

DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones. [musculoskeletalkey.com]

[…] nosology for skeletal dysplasias. [ncbi.nlm.nih.gov]

European skeletal dysplasia network (ESDN). 2003-2010. www.esdn.org (accessed April 16, 2015). International skeletal dysplasia society (ISDS). 2004-2015. www.isds.ch. [karger.com]

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Dappled Diaphyseal Dysplasia

DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones. [musculoskeletalkey.com]

Orthopedic management including surgical treatment is discussed for: skeletal dysplasias; epiphyseal growth plate fracture-separations; lower extremity length discrepancies [books.google.com]

Thanatophoric dysplasia and achondrogenesis accounted for 62% of all lethal skeletal dysplasias, and the most common nonlethal skeletal dysplasia was achondroplasia. 28 In [radiologykey.com]

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Greenberg Dysplasia

DIAGNOSIS The diagnosis of a skeletal dysplasia should be considered in any patient who has disproportionately short stature or abnormal development of one or more bones. [musculoskeletalkey.com]

Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported [ncbi.nlm.nih.gov]

These findings further delineate the spectrum of this rare autosomal recessive skeletal dysplasia. [ncbi.nlm.nih.gov]

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Femoral Hypoplasia

prenatal / intrauterine dwarfism Short stature - postnatal Short limbs Skin dimples Pointed chin Depressed nasal bridge Cleft nose / bifid tip Thin lips Long philtrum Low [mediscansystems.org]

It can be seen as an isolated defect or associated with features consistent with skeletal dysplasia [ 12 ]. [radiologykey.com]

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia. American Journal of Medical Genetics, 117A, 203–206. [link.springer.com]

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Femoral Agenesis - Femoral Hypoplasia

dysplasias 653 463 Dysostoses localized hereditary skeletal deformities 686 464 Chromosomal abnormalities 688 465 Syndromes with neuromuscular abnormalities 691 466 Various [books.google.com]

Readout - What to think about when the femur seems too short Take Home Points FILLY'S RULE FOR DIAGNOSING SKELETAL DYSPLASIAS Never diagnose a skeletal dysplasia if the bones [myminifellowship.com]

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Cystitis

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

Classification Developmental  Isolated (may be bilateral)  Associated with a skeletal dysplasia o Cleidocranial dysostosis o Metaphyseal dysostosis o Other skeletal dysplasias [slideshare.net]

[…] and a Spectrum of Skeletal Dysplasia Phenotypes. 61 Burrage LC...Lee B 30773277 2019 25 The Managment of cervical spine abnormalities in children with spondyloepiphyseal [malacards.org]

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Hypophosphatasia

[…] teeth Clinical course, radiographs, laboratory findings Childhood (juvenile) AR or AD Short stature, skeletal deformity, bone pain/fractures Premature loss, deciduous teeth [ncbi.nlm.nih.gov]

KEYWORDS: ALPL; TNSALP; alkaline phosphatase; bone mineralization; hypophosphatasia; odontohypophosphatasia; skeletal dysplasia [ncbi.nlm.nih.gov]

Based on these sonographic findings, skeletal dysplasia and short-limb dwarfism were diagnosed, the most likely condition being congenital hypophosphatasia. [ncbi.nlm.nih.gov]

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Cystocele

[…] and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. [ncbi.nlm.nih.gov]

Also included in this category are secondary varus changes due to generalized skeletal conditions or dysplasias such as Morquio disease (mucopolysaccharidosis type IV), cleidocranial [emedicine.medscape.com]

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Osteoporosis

The skeletal dysplasia is distinguishable from hypophosphatasia on clinical examination and skeletal survey. [web.archive.org]

[…] course Prenatal ultrasound examination, clinical course Infantile 2 Mostly AR Craniosynostosis, Hypomineralization, rachitic ribs, hypercalciuria Premature loss, deciduous [web.archive.org]

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Autosomal Dominant Mental Retardation Type 21

In addition, affected individuals may remain low in weight and exhibit abnormally short stature (prenatal and postnatal growth retardation), failure to thrive during infancy [rarediseases.org]

(OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly [iofbonehealth.org]

Intellectual disability and rhizomelic skeletal dysplasia is present in some affected individuals. {ECO:0000269 PubMed:24906020}. [genecards.org]

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Hyponatremia

Wenkert D, McAlister WH, Coburn S, Ryan L, Hersh JH, Zerega J, Mumm S, MP W: Non-lethal hypophosphatasia interpreted as severe skeletal dysplasia in utero. [ojrd.biomedcentral.com]

[…] trauma,” and a follow-up complete skeletal survey was recommended. [hindawi.com]

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Gorlin-Chaudhry-Moss Syndrome

She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under - 2.0 SD from birth [snucm.elsevierpure.com]

Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness [nfed.org]

She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under 2.0 SD from birth [springermedizin.de]

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Cutis Laxa

Severe short stature, mental retardation and hypertrophic cardiomyopathy are other associated manifestations (16). [caribbean.scielo.org]

In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia [ncbi.nlm.nih.gov]

In contrast, Menkes disease, at the more severe end of the spectrum, shows severe neuromotor delay and a metaphyseal skeletal dysplasia with growth retardation in addition [cmgg.be]

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