Short Humerus: Causes & Reasons

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Possible Causes for Short Humerus

Rhizomelic Chondrodysplasia Punctata Type 2

humerus Abnormality of the eye Cataract Abnormality of the musculoskeletal system Calcific stippling Flexion contracture Generalized hypotonia Hypotonia Irregular vertebral [ncbi.nlm.nih.gov]

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat [mousephenotype.org]

Facioauriculoradial Dysplasia

2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs [mousephenotype.org]

humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia [malacards.org]

[…] tibia Radial bowing Short 4th metacarpal Abnormality of the humerus Abnormality of the carpal bones Abnormality of the skeletal system Multiple exostoses Mesomelic short [mendelian.co]

Cerebro-Costo-Mandibular Syndrome

humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Showing of 56 | Last updated: 7/1/2019 [rarediseases.info.nih.gov]

[…] head 0000358 Postnatal growth retardation Growth delay as children 0008897 Renal cyst Kidney cyst 0000107 Rib gap 0030280 Scoliosis Abnormal curving of the spine 0002650 Short [rarediseases.info.nih.gov]

CODAS Syndrome

Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [ncbi.nlm.nih.gov]

humerus Short metacarpal Short phalanx of finger Abnormality of prenatal development or birth Polyhydramnios Abnormality of the cardiovascular system Atrial septal defect [ncbi.nlm.nih.gov]

Short metacarpal MedGen UID: 323064 •Concept ID: C1837084 • Anatomical Abnormality Diminished length of one or more metacarpal bones in relation to the others of the same [ncbi.nlm.nih.gov]

Rhizomelic Dysplasia - Scoliosis - Retinitis Pigmentosa

[…] neck of thighbone 0100864 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short neck Decreased length of neck 0000470 Short ribs 0000773 Strabismus [rarediseases.info.nih.gov]

[…] upper portion of limb 0008905 Rod-cone dystrophy 0000510 Scoliosis Abnormal curving of the spine 0002650 Short clavicles Short collarbone 0000894 Short femoral neck Short [rarediseases.info.nih.gov]

[…] light Light hypersensitivity [ more ] 0000613 Prominent deltoid tuberosities 0003890 Reduced visual acuity Decreased clarity of vision 0007663 Rhizomelia Disproportionately short [rarediseases.info.nih.gov]

Ulnar Mammary Syndrome

[…] scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis [datagenno.com]

Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus [datagenno.com]

Wiedemann-Rautenstrauch Syndrome

[…] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 [rarediseases.info.nih.gov]

Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short [rarediseases.info.nih.gov]

Omodysplasia Type 1

humerus Commonly - More than 50% cases Fibular hypoplasia Not very common - Between 30% and 50% cases Drusen And 41 more phenotypes. [mendelian.co]

Polydactyly Syndrome Mimics of Skeletal Dysplasias Chronic Intervillous Histiocytosis Focal anomalies upper limb Shortened fetal humerus Aneuopliody syndromic • Down syndrome [slideshare.net]

The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities ( Baxova et al., 1994 ). [mendelian.co]

Grebe Syndrome

[…] digit 0011927 Short femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short phalanx of finger Short finger bones [rarediseases.info.nih.gov]

0001371 Hypoplasia of the radius Underdeveloped outer large forearm bone 0002984 Hypoplasia of the ulna Underdeveloped inner large forearm bone 0003022 Pes valgus 0008081 Short [rarediseases.info.nih.gov]

Humerus Trochlea Aplasia

Human phenotypes related to Trochlea of the Humerus, Aplasia of: 33 # Description HPO Frequency HPO Source Accession 1 cleft palate 33 HP:0000175 2 short humerus 33 HP:0005792 [malacards.org]

TROCHLEA OF THE HUMERUS, APLASIA OF Limbs - Aplasia of trochlea of humerus [SNOMEDCT: 732928005 ] [UMLS: C1860773 ] - Flexed elbows - Pronated forearms - Short humerus [UMLS [omim.org]

Symptoms - Humerus trochlea aplasia of * Short upper arm bone * Webbed elbow * Limited elbow extension * Dislocated elbow * Wasted arm muscle Causes - Humerus trochlea aplasia [checkorphan.org]

Rhizomelic Chondrodysplasia Punctata Type 3

[from OMIM] Show allHide all Abnormality of limbs Rhizomelia Short femur Short humerus Abnormality of the musculoskeletal system Epiphyseal stippling Growth abnormality Disproportionate [ncbi.nlm.nih.gov]

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones Click here to view Abdominal and cranial ultrasonography [jcnonweb.com]

Rhizomelic Chondrodysplasia Punctata Type 1

The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. [scirp.org]

The rhizomelic chondrodysplasia presents: short femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit. [tellmegen.com]

Multiple Synostoses Syndrome Type 4

[…] foot Short feet Small feet [ more ] 0001773 Short hallux Short big toe 0010109 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short lower limbs [rarediseases.info.nih.gov]

Funnel chest 0000767 Progressive conductive hearing impairment 0008607 Proximal symphalangism of hands Fused innermost hinge joints 0006152 Radial deviation of finger 0009466 Short [rarediseases.info.nih.gov]

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]

Cranioectodermal Dysplasia Type 1

Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122[…] [en.wikipedia.org]

Omodysplasia

1st metacarpal Short humerus Abnormality of the genitourinary system Cryptorchidism Hypospadias Micropenis Abnormality of the musculoskeletal system Frontal bossing IMPORTANT [ncbi.nlm.nih.gov]

[…] bridge Long philtrum Abnormality of limbs Dislocated radial head Hypoplastic distal humeri Limited elbow flexion Limited elbow flexion/extension Rhizomelic arm shortening Short [ncbi.nlm.nih.gov]

Symphalangism - Brachydactyly - Craniosynostosis

Femoral Agenesis - Femoral Hypoplasia

[…] limbs upper limb anomalies bilateral short humerus (bilateral humeral hypoplasia) right radial agenesis right cubital agenesis bilateral oligodactyly right 4th-5th finger [humpath.com]

[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in [phenotip.com]

[…] fifth metatarsal Short 5th long bone of foot 0004704 Short fourth metatarsal Short 4th long bone of foot 0004689 Short humerus Short long bone of upper arm Short upper arms [rarediseases.info.nih.gov]

Coxoauricular Syndrome

Short humerus Pica Elevated calcitonin Hip dysplasia Limitation of joint mobility Gait disturbance Large iliac wings Abnormal form of the vertebral bodies Delayed eruption [mendelian.co]

humerus SOURCES: OMIM MONDO DOID GARD MESH UMLS ORPHANET More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 Low match ENCHONDROMATOSIS Enchondromatosis is [mendelian.co]

[…] foot Failure to thrive Toe syndactyly Prominent forehead Midface retrusion Malar flattening Atrial septal defect Brachydactyly Growth delay Short femur Epiphyseal stippling [mendelian.co]

Femoral Hypoplasia

[…] femur Rhizomelia/short humerus Short fibula Short nose with a broad tip Talipes Thin upper lip Unilateral hypoplasia/atrophy of cerebellum Parents markers: Brain Cleft in [phenotip.com]

Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular asymmetry Maternal diabetes mellitus Micrognathia/retrognathia Rhizomelia/short [phenotip.com]

Absent Tibia - Polydactyly - Arachnoid Cyst Syndrome

[…] or femur is short Mesomelia — humerus and femur normal, but forearm or calf are short Micromelia — when both segments are shortened [quizlet.com]

Short Femur with Short Screen Normal Short Femur Short Femur Humerus and Humerus Femur Nuchal Echogeni Risk Ultrasonography by BPD/FL by O/E by O/E by O/E orHumerus Fold [glowm.com]

[…] layer between the diaphysis and the outer end of the bone — where bone starts to widen Epiphysis = very end of the bone — rounded end, growth plate Rhizomelia — just the humerus [quizlet.com]

Rhizomelic Chondrodysplasia Punctata

The baby had short humerus bones with stippled epiphyses, consistent with the disease. [file.scirp.org]

The rhizomelic chondrodysplasia presents: short femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit. [tellmegen.com]

Metaphyseal Acroscyphodysplasia

[…] finger Stubby finger Stubby fingers [ more ] 0009381 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Short metacarpal Shortened long bone of [rarediseases.info.nih.gov]

Polydactyly Syndrome Mimics of Skeletal Dysplasias Chronic Intervillous Histiocytosis Focal anomalies upper limb Shortened fetal humerus Aneuopliody syndromic • Down syndrome [slideshare.net]

[…] retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Narrow pelvis bone 0003275 Platyspondyly Flattened vertebrae 0000926 Short [rarediseases.info.nih.gov]

Congenital Disorder of Glycosylation Type 1G

Short humerus MedGen UID: 316907 •Concept ID: C1832117 • Congenital Abnormality Underdevelopment of the humerus. [ncbi.nlm.nih.gov]

Congenital Longitudinal Deficiency of the Ulna

Type III (distal) – short humerus attached to hand.  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial [slideshare.net]

ICD 9 CM Field Value Diagnosis Code: 755.23 Long Description: Longitudinal deficiency, combined, involving humerus, radius, and ulna (complete or incomplete) Short Description [emedcodes.com]

Type III (distal) – short humerus attached to hand i.e. hand is attached to the arm at the elbow (absence of forearm). • Surgery – very little role. 31. [slideshare.net]

Humero-Radial Synostosis

There was aplasia of the left ulna and a short left radius fused to a very short humerus. [annsaudimed.net]

Type III (distal) – short humerus attached to hand.  Surgery – very little role. 9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial deficiency/Longitudinal radial [de.slideshare.net]

Intercalary arrest  Intervening segment of limb is absent (arm/forearm)  Thalidomide in 1st trimester  Type I (complete) - hand directly attached to trunk Type II (proximal) – short [de.slideshare.net]

Osteogenesis Imperfecta Type 2

Short stature, Coxa vara, and shorter leg bones, humerus, and femur are common in Type VII OI. [news-medical.net]

Short stature. Short humerus (arm bone) and short femur (upper leg bone) Coxa vera is common (the acutely angled femur head affects the hip socket). [oif.org]

It is common for leg bones, humerus and femur to be short. Short stature is common. Coxa vara is common. [oif.org]

Terminal 4q Deletion Syndrome

Radiographs showed a short humerus and absent ulna bilaterally. On the upper extremities there was only a single digit. [ashg.org]

Radial Hemimelia

[…] of dwarfism Limb length discrepancy (this occurs when one arm is shorter than the other) Nonunions and malunions (this occurs when a normal bone does not heal correctly) Short [lifebridgehealth.org]

The humerus may or may not be short, and deficiencies of the capitellum and trochlea are common. Elbow motion is usually diminished more in flexion than in extension. [emedicine.medscape.com]

In the upper arm, the humerus was short, thin, and decalcified [Figure 1B; Table 1]. [ncbi.nlm.nih.gov]

Congenital Deformities of Limbs

Short humerus This condition is most commonly due to damage of the growth plate of the humerus from infection, bone cyst, or fracture. [lifebridgehealth.org]