Short Extremities: Causes & Reasons

Possible Causes for Short Extremities

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

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

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]

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

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]

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 (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]

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]

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]

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]

All extremity long bones were affected and short for age. The growth failure was progressive. [ncbi.nlm.nih.gov]

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 surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. [achondroplasia-growthcharts.com]

[…] are shorter than lower extremities Hands are short; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1. [slideshare.net]

Dermatosparaxis

[…] stature, redundant lax skin with extreme skin fragility and easy bruising (with formation of large subcutaneous hematomas) and large fontanels. [geneskin.org]

and short fingers. [uniprot.org]

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

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]

short stature Usually wheelchair bound by teenage years Type IV Variable but usually milder course; normal or near-normal lifespan Mild to moderate skeletal fragility and [physio-pedia.com]

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

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]

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]

|title=Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. [en-academic.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]

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]

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

[…] bowed extremities, discolored sclera and teeth, and occasionally a positive family history for this condition. [the-medical-dictionary.com]

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]

In the cognitive debriefing session, 7 of the 8 items on the PROMIS Pediatric/Parent Proxy Short Form v2.0—Upper Extremity 8a were endorsed as being relevant, highlighting [ojrd.biomedcentral.com]

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]

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

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]

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]

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 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

Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Alpha thalassemia is particularly common among people of African, Mediterranean, or Southeast Asian ancestry. Beta-thalassemia is more common in people of Mediterranean, Middle Eastern, Southeast Asian,[…] [msdmanuals.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

Smith-Lemli-Opitz Syndrome In this article Pathogenesis Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Prevention Synonyms: SLO syndrome (SLOS), RSH syndrome and Rutledge lethal multiple congenital anomaly syndrome The syndrome was first described by Smith, Lemli and Opitz in[…] [patient.info]

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]

Physical examination revealed a narrow chest and short extremities. [ncbi.nlm.nih.gov]

Short Rib-Polydactyly Syndrome

[…] chest, short extremities, and variable occurrence of polydactyly. [ncbi.nlm.nih.gov]

Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. [ncbi.nlm.nih.gov]

The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. [ncbi.nlm.nih.gov]

Hypochondrogenesis

Newborns with hypochondrogenesis are usually characterized by a short upper body and short extremities. [medical-genetics.de]

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

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