Absent Clavicle: Causes & Reasons

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Possible Causes for Absent Clavicle

Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development [ncbi.nlm.nih.gov]

( absent clavicles ): may have two separate hypoplastic segments 5 supernumerary ribs hemivertebrae with spondylosis small and high scapulae Pelvis hypoplasia of iliac bones [web.archive.org]

BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent clavicles, increased head circumference, large [ncbi.nlm.nih.gov]

Marden-Walker Syndrome

clavicles (rare); pulmonary hypoplasia (rare). [accessanesthesiology.mhmedical.com]

[…] dilation, cerebellar hypoplasia, agenesis of corpus callosum; multiple joint contractures present at birth; scoliosis, arachnodactyly; clubfeet; pectus excavatum or carinatum, absent [accessanesthesiology.mhmedical.com]

Crane-Heise Syndrome

clavicles. [pubcasefinder.dbcls.jp]

[…] is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles CRANE-HEISE SYNDROME Cleft Lip/Palate [wikidata.org]

Orpha Number: 1512 Definition Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent [rareguru.com]

Parietal Foramina with Cleidocranial Dysplasia

Cleidocranial Dysplasia (CCD) is a skeletal disorder characterized by open fontanelles (soft spot), small or absent clavicles (collarbones), and multiple dental abnormalities [ccdsmiles.org]

clavicles and deficient skull development manifested by open sutures and large fontanels with delayed closure. [pediatrics.aappublications.org]

[…] may be completely absent on one or both sides, but more commonly are underdeveloped, usually deficient at the end closest to the shoulders. [jnsbm.org]

Lenz-Majewski Syndrome

/small skin Absent/underdeveloped skin [ more ] 0008065 Aplastic clavicle Absent collarbone 0006660 Brachydactyly Short fingers or toes 0001156 Broad forehead Increased width [rarediseases.info.nih.gov]

/small middle finger bone of the hand Absent/underdeveloped middle finger bone of the hand [ more ] 0009843 Autosomal dominant inheritance 0000006 Broad clavicles Broad collarbone [rarediseases.info.nih.gov]

Enamel abnormalities Enamel abnormality [ more ] 0000682 Abnormality of the metaphysis Abnormality of the wide portion of a long bone 0000944 Aplasia/Hypoplasia of the skin Absent [rarediseases.info.nih.gov]

Oculootoradial Syndrome

[…] anus 0002023 Aplastic clavicle Absent collarbone 0006660 Arrhythmia Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ] 0011675 Leukocytosis [rarediseases.info.nih.gov]

[ more ] 0009778 Synostosis of carpal bones Fusion of wrist bones 0005048 Triphalangeal thumb Finger-like thumb 0001199 5%-29% of people have these symptoms Anal atresia Absent [rarediseases.info.nih.gov]

Mandibuloacral Dysplasia with Type B Lipodystrophy

Absent/small collarbone Absent/underdeveloped collarbone [ more ] 0006710 Dermal atrophy Skin degeneration 0004334 Large fontanelles Wide fontanelles 0000239 Micrognathia [rarediseases.info.nih.gov]

Showing of 49 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Acroosteolysis of distal phalanges (feet) 0001870 Aplasia/Hypoplasia of the clavicles [rarediseases.info.nih.gov]

Humeroradial Synostosis with Craniofacial Anomalies

clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. [scinapse.io]

A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. [medlink.com]

[…] and mental retar...more : We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent [scinapse.io]

Pyknodysostosis

[…] fragile bones that may fracture easily, abnormal or absent collarbone (clavicle), and skull abnormalities with a protruding forehead and bulge on the back of the skull caused [ghc.org]

This disorder is characterized by short stature, increased bone density (osteosclerosis/osteopetrosis), underdevelopment of the tips of fingers with absent or small nails, [ghc.org]

Nestor-Guillermo Progeria Syndrome

clavicles skeletal 100 % 21932319 2013-08-06 Thorax deformity skeletal 100 % 21932319 2013-08-06 Thin limbs skeletal 100 % 21932319 2013-08-06 Stiff joints skeletal 100 % [brain-aging.com]

Plain radiographs of her hands and chest showed marked osteolysis (acro-osteolysis of terminal phalanges and absent clavicles; Figures 3a and b, respectively). [nature.com]

% 21932319 2013-08-06 Decreased subcutaneous fat integumentary 100 % 21932319 2013-08-06 Skin pigmentation changes integumentary 100 % 21932319 2013-08-06 Hypoplastic or absent [brain-aging.com]

Postaxial Polydactyly Type A5

clavicles, increased head circumference, large fontanels, dental anomalies and short stature. [jmg.bmj.com]

Berlin, Germany; eva.klopocki{at}charite.de Abstract Background Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent [jmg.bmj.com]

Hypergonadotropic Hypogonadism - Partial Alopecia

[…] eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course [ab-y-ss.com]

[…] and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent [ab-y-ss.com]

Perinatal Hypophosphatasia

Prenatal US may reveal absent or hypoplastic clavicles, missing nasal bones, and hypomineralization of the cranium and vertebral spine early in the second trimester [80–82 [ncbi.nlm.nih.gov]

[…] or hypoplastic scapula Small, bell-shaped thorax Short ribs Narrow barrel-shaped thorax Prominent abdomen Hypoplastic or absent clavicles Shortened ribs Narrow thorax Prominent [ncbi.nlm.nih.gov]

[…] abdomen Skull Absent ossification of skull base Wide sutures and fontanelles Prominent falx cerebri in sonograms Caput membranaceum Wormian bones Hypomineralization of skull [ncbi.nlm.nih.gov]

Aplasia or Hypoplasia of Halluces

[…] nipples Ribs Sternum Clavicles And Scapulae Hypoplastic clavicles Absent clavicles Abnormal scapula Absent sternal ossification Genitourinary External Genitalia Male Micropenis [mnglabs.com]

[…] or have an extra bone; scapulae, clavicles, and/or other bones may also be abnormal. [icd10data.com]

[…] stenosis Cardiovascular Heart Congenital heart defect Tetralogy of Fallot Cardiomyopathy Ventricular septal defect Vascular Primary pulmonary hypertension Chest Breasts Absent [mnglabs.com]

Epiphyseal Dysplasia Type Baumann

A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Clin Dysmorphol 2001;10:181-4. [chu-montpellier.fr]

clavicles AD RUNX2/CBFA gene mutation (regulates OB differentiation) Coxa vara Short middle phalanges frontal bossing Morquio, Hurler, Sanfillippo, Hunter AR, AR,AR, X-linked [quizlet.com]

Califlower ear Hitchhikers thumb Cervical kyphosis Genu valgum Skewfoot (Serpentine or Z foot) Form of disproportionate dwarfism AD COL2A1 joinst stiffness dumbbell femora Absent [quizlet.com]

Postaxial Polydactyly Type A4

clavicles, increased head circumference, large fontanels, dental anomalies and short stature. [jmg.bmj.com]

Berlin, Germany; eva.klopocki{at}charite.de Abstract Background Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent [jmg.bmj.com]

Skeletal Dysplasia - Intellectual Disability Syndrome

Chest roentgenogram revealed absent right clavicle with hypoplastic left clavicle and absent left 12 th rib [Figure 2]. [jmedscindmc.com]

(B) AP view of the upper chest showing an absent right clavicle and small hypoplastic medial segment (arrow) on the left. 7. Thanatophoric dysplasia. 8. [slideshare.net]

Figure 2: Chest roentgenogram showing absent right clavicle with hypoplastic left clavicle and absent left 12 th rib Click here to view Figure 3: X-ray skull showing multiple [jmedscindmc.com]

Hajdu-Cheney Syndrome

The differential diagnoses include cleidocranial dysplasia (associated with abnormal/absent clavicle), pyknodysostosis (an osteosclerotic condition), progeria (a syndrome [ijri.org]

Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

clavicles - joint laxity - Coloboma/Cognitive Deficits - Heart dz - Atresia of choanae - Retarded growth and development - GU abnormalities - Ear anomalies - deletion short [quizlet.com]

[…] extra digits on feet - cardiac abnormalities - AD inheritance - brachycephaly - frontal bossing - wormian bones - delayed eruption of deciduous/permanent teeth - hypoplastic/absent [quizlet.com]

Ulnar Mammary Syndrome

[…] lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis [datagenno.com]

Pyloric stenosis Hands Hypoplastic flexion creases of first and second digits Mammary Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent [datagenno.com]

Congenital Microgastria

clavicle, complex heart disease (Atrial septal defect, truncus arteriosus), imperforate anus, absent lobe lung, and segmentation defect can occur. [accessanesthesiology.mhmedical.com]

[…] anus 0002023 Anophthalmia Absence of eyeballs Failure of development of eyeball Missing eyeball No eyeball [ more ] 0000528 Aplastic clavicle Absent collarbone 0006660 Arrhinencephaly [rarediseases.info.nih.gov]

[…] ocular muscles, microphthalmos or anophthalmia, mental retardation, arrhinencephaly, fused thalami, agenesis of corpus callosum, cranial nerve anomalies, lissencephaly, absent [accessanesthesiology.mhmedical.com]

Fibular Dimelia-Diplopodia Syndrome

[…] pectoral muscles Anomalies of the ribs Rib number anomalies Rib structure anomalies Asymmetric rib cage/thorax Breast tissue/mammary gland absence/aplasia Clavicle absent [readbag.com]

Congenital torticolli Cystic hygroma Excess nuchal skin without pterygium colli Short neck Webbed neck/pterygium colli Anomalies of chest/thorax/trunk Abnormally placed nipples Absent [readbag.com]

Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Extremities (other) : Brachydactyly, arachnodactyly clubfoot, dysplastic or absent ulna, humeral abnormalities, absent clavicles, Sprengel deformity, congenital hip dysplasia [roentgenrayreader.blogspot.com]

[…] placenta Thin clavicles Aplasia/Hypoplasia of the clavicles Decreased calvarial ossification Stiff skin Temporomandibular joint ankylosis Congenital pseudoarthrosis of the clavicle [mendelian.co]

Microcolon Generalized hyperkeratosis Orthokeratosis Widely patent fontanelles and sutures Short nail Dermal translucency Thoracic kyphoscoliosis Narrow nasal ridge Sparse or absent [mendelian.co]

Hamamy Syndrome

[…] frontal sinuses 0002688 Absent paranasal sinuses Missing paranasal sinuses 0002689 Aplastic clavicle Absent collarbone 0006660 Autosomal dominant inheritance 0000006 Cervical [rarediseases.info.nih.gov]

Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). [ghr.nlm.nih.gov]

The clavicles are hypoplastic or absent. [rrnursingschool.biz]

Mandibuloacral Dysostosis

absent / abnormal - External ear anomalies - Global upper and lower limbs anomalies - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Large fontanelle [csbg.cnb.csic.es]

[…] eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course [genecards.org]

[…] or incompletely formed collar bones (the “cleido “ part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or… … Medical [medicine.academic.ru]

Microcephaly - Chorioretinopathy - Lymphedema - Mental Retardation

clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation [pesquisa.bvsalud.org]

(cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent [pesquisa.bvsalud.org]

Micrognathism

Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges [radiopaedia.org]

Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). [findzebra.com]

Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels [findzebra.com]

Syndromic Microphthalmia Type 10

Skeletal features include microcephaly, spinal deformities, high arched palate, pectus excavatum, absent or dysplastic clavicles (accounting for the narrow or sagging shoulders [disorders.eyes.arizona.edu]

Congenital Pseudoarthrosis of Clavicle

absent 5 th –8 th right ribs and cardiomegaly Click here to view Discussion The clavicle is the first bone to ossify in utero at about the 6 th –7 th week of life; but its [saudijhealthsci.org]

Its pathogenesis remains unclear, but all the theories corroborate the idea that fusion of the ossification nuclei of the clavicle is absent. [ncbi.nlm.nih.gov]

The full blood count showed a packed cell volume of 45.8% while other parameters were not remarkable; chest X-ray showed absent 5 th –8 th right ribs, double right/left clavicles [saudijhealthsci.org]

Progeria

absent ossification of pubic bones in early infancy, underdevelopment of the pubic and inferior portion of ischial bones in childhood; wide pubic symphysis; numerous, large [mirc.luriechildrens.org]

80%-99% of people have these symptoms Abnormal trabecular bone morphology 0100671 Absence of pubertal development 0008197 Alopecia Hair loss 0001596 Aplastic clavicle Absent [rarediseases.info.nih.gov]

Plain radiographs of her hands and chest showed marked osteolysis (acro-osteolysis of terminal phalanges and absent clavicles; Figures 3a and b, respectively). [doi.org]