Short Extremities: Causes & Reasons

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Possible Causes for Short Extremities

Achondrogenesis Type 2

short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities. [emedicine.medscape.com]

short Thorax – Short and flared thorax, bell-shaped cage, lung hypoplasia Abdomen – Protuberant Limbs – Extremely short (micromelia) Causes Type IA is an autosomal recessive [odlarmed.com]

External morphology revealed a relatively large head, short upper and lower extremities, short neck, and distended abdomen. [jpatholtm.org]

Achondrogenesis Type 1B

Diastrophic dysplasia is a more mild form characterized by short stature (very short extremities), protruding abdomens, and narrow chests. [nxgenmdx.com]

short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities. [emedicine.medscape.com]

Hypochondroplasia

RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac [ncbi.nlm.nih.gov]

Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov]

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov]

Achondrogenesis

short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities. [emedicine.medscape.com]

Ultrasonography showed extreme micromelia, short neck and trunk, large head and prominent abdomen. [apjr.net]

Pseudoachondroplasia

He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile. [ncbi.nlm.nih.gov]

Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized [abstracts.eurospe.org]

Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock [hopkinsmedicine.org]

Cartilage Hair Hypoplasia

Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics [littlepeopleuk.org]

Severely uncapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as essential cell growth regulator. [analesdepediatria.org]

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator [1]. [wikigenes.org]

Achondroplasia

[…] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor [medlink.com]

Clinical Findings Delayed motor development Recurrent otitis media Normal intelligence Short stature Lower extremity radiculopathy Imaging Findings Can be detected before [learningradiology.com]

The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the [medicinenet.com]

Metaphyseal Chondrodysplasia Type Schmid

Bowing of the extremities, mild short stature and a waddling gait are evident at a young age. [ctgt.net]

leg pains, bowed legs, increased lordosis, and waddling gait; - upper extremity: - mild wrist swelling; - flexion contractures of the elbows ; - lower extremities - more [wheelessonline.com]

Kniest dysplasia Kniest dysplasia is characterized by extreme short stature, prominent joints, especially in knee, and mid‐face hypoplasia. [intechopen.com]

Osteogenesis Imperfecta

Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery. [ncbi.nlm.nih.gov]

It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures. [patient.info]

Shwachman Syndrome

Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. [ncbi.nlm.nih.gov]

Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation [radiopaedia.org]

Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature. [bloodjournal.org]

Mucopolysaccharidosis

It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive [icd9data.com]

Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. [ncbi.nlm.nih.gov]

The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral [ncbi.nlm.nih.gov]

Dermatosparaxis

and short fingers. [uniprot.org]

puffy eyelids, micrognathia, umbilical hernia, and short fingers. [ncbi.nlm.nih.gov]

Symptoms: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Short fingers and stature Characteristic facial [thesun.co.uk]

Pseudohypoparathyroidism

The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000. [en.wikipedia.org]

prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling. [doi.org]

Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a [en.wikipedia.org]

Short Rib-Polydactyly Syndrome Type Beemer-Langer

Jeune syndrome Ellis–van Creveld syndrome SRPS type III Long bones Moderately shortened Shortened (rhizomelia) Severely shortened Ribs Short, horizontal Extremely short, horizontal [fetalultrasound.com]

We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. [ncbi.nlm.nih.gov]

[…] shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. [deepdyve.com]

Trisomy 21

Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%). [journals.lww.com]

[…] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth [emedicine.com]

Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative [journals.lww.com]

Mucopolysaccharidosis Type 1

Standard reference equations based on data from normal individuals may not apply to MPS patients with systemic skeletal dysplasia and extremely short stature. [link.springer.com]

Walker et al in their review article on MPS have stated that the LMA was found to be extremely useful both to provide a secure airway for short procedures and also to clear [ijaweb.org]

Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX. [neurology.testcatalog.org]

Rickets

Clinical characteristics included: delays of sitting, walking, and teething; bone and chest deformities; widened wrists and ankles; and bowed lower extremities. [ncbi.nlm.nih.gov]

Clinical description During childhood, the disease manifests with short stature, rickets affecting primarily lower extremity deformities. [orpha.net]

The lower extremities are bowed, and treatment of severe bowing requires valgus osteotomies. The phalanges are short, broad, and cupped. [doi.org]

Mucopolysaccharidosis Type 1 H

The neck may be short and stiff, and facial appearance unremarkable. [mps1disease.com]

[…] foreheads, and large heads, which tend to be longer than normal from front to back (scaphocephalism).[3] The appearance of mildly affected individuals with attenuated MPS I is extremely [mps1disease.com]

Spondyloepimetaphyseal Dysplasia Type Matrilin-3

Note the short extremities, relatively normal hands, flat facies, and exaggerated lordosis. [clinicalgate.com]

They have short trunk and, in relationship to the spinal length, long extremities. [musculoskeletalkey.com]

Is the thorax extremely small (thanatophoric dysplasia)? 2. Is the thorax long and narrow (Jeune syndrome)? 3. Are the ribs extremely short (short-rib polydactyly)? 4. [slideshare.net]

Metaphyseal Chondrodysplasia Type Kaitila

Micromelia MedGen UID: 10031 • Concept ID: C0025995 • Congenital Abnormality The presence of abnormally small extremities. short extremities MedGen UID: 116086 • Concept ID [ncbi.nlm.nih.gov]

Patient I at 18 yr of age presenting with severe disproportionate short stature, short extremities, Fig. 1B. [documents.tips]

short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. [ncbi.nlm.nih.gov]

Spondyloepimetaphyseal Dysplasia Type Shohat

The radiographic findings in achondroplasia are as follows: Shortening of tubular bones with a normal shaft caliber Short extremities and ribs-versus-trunk length (see the [emedicine.medscape.com]

PMID: 29884795 An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Menger H, Mundlos S, Becker K, Spranger J, Zabel B. Menger H, et al. [pubmed.ncbi.nlm.nih.gov]

May 1, 2017 By Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation [checkrare.com]

Thalassemia

History and Physical Examination Patients with the beta thalassemia trait generally have no unusual physical findings. In patients with beta thalassemia major, the physical findings are related to severe anemia, ineffective erythropoiesis, extramedullary hematopoiesis, and iron overload resulting from transfusion and[…] [emedicine.medscape.com]

C Syndrome

Associated skeletal abnormalities These anomalies mainly involve the spine (30 to 40%) [ 18, 30, 39 ] and, less frequently, the face and the limb extremities. [ncbi.nlm.nih.gov]

[…] association are scoliosis (20%) [ 30 ], isolated vertebral anomalies (asymmetric, fused or wedged vertebrae), Klippel-Feil association (fusion of at least two cervical segments, short [ncbi.nlm.nih.gov]

Smith Lemli Opitz Syndrome

Abuelo DN, Tint GS, Kelley R, Batta AK, Shefer S, Salen G. Prenatal detection of the cholesterol biosynthetic defect in the Smith- Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet. 1995;56:281–5. [PubMed: 7778590] Anstey A. Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. J[…] [ncbi.nlm.nih.gov]

Anauxetic Dysplasia

Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the [unboundmedicine.com]

People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities. [checkorphan.org]

Saldino-Noonan Syndrome

In this form of short-limbed dwarfism, hydrops is usually present, the chest is extremely narrow due to the very short horizontal ribs, and the long bones are extremely short [rrnursingschool.biz]

The findings on the physical examination of the newborn were wide open forehead, fallen ears, short and flat nasal arc, micrognathia, narrow thorax, short extremities, small [hindawi.com]

Note the horizontal, very short ribs, the high clavicles and the extremely short, jagged long bones. Figure 2.77. [rrnursingschool.biz]

Thanatophoric Dysplasia

Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly [ncbi.nlm.nih.gov]

Disproportionately short extremities that are bowed in type 1, but often straight in type 2, as well as a narrow thoracic cage (and consequent underdevelopment of the lungs [symptoma.com]

extremities and small thorax. [sljog.sljol.info]

Asphyxiating Thoracic Dysplasia

Short extremities are common with occasional postaxial hexadacyly. [mirc.luriechildrens.org]

[…] hypoplasia and other skeletal anomalies (scoliosis, short extremities). [neocyst.de]

The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5). [czytelniamedyczna.pl]

Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

Resumen Los síndromes de enanismo esencial microcefálico son un grupo de enfermedades monogénicas infrecuentes que se caracterizan principalmente por talla baja extrema proporcionada de inicio prenatal y microcefalia severa. En los pacientes que formaron parte del presente estudio se investigaron variantes en el[…] [repository.urosario.edu.co]

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

Displasia spondiloepimetafisaria con arti corti e anomala calcificazione OMIM 271665 Displasia spondiloepimetafisaria con arti corti e anomala calcificazione OMIM 271665 E' una displasia scheletrica rara causata da mutazioni del gene DDR2 che mappa sul cromosoma 1q23. E' caratterizzata da bassa statura con micromelia[…] [med2000eco.it]