Sloping Shoulders & Thumb Hypoplasia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Sloping Shoulders, Thumb Hypoplasia,

Negated

None

Unsure

None

Possible Causes

Cleidocranial Dysplasia

The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the [jamanetwork.com]

shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies. [ncbi.nlm.nih.gov]

& great toes Absence/hypoplasia of thumbs, halluces & distal phalanges Gracile bones Brain malformations CDAGS syndrome (OMIM 603116 ) Unknown AR Craniosynostosis, delayed [ncbi.nlm.nih.gov]

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Holt Oram Syndrome

Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when [ncbi.nlm.nih.gov]

shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation. [ncbi.nlm.nih.gov]

[thumb aplasia] (35% - see photo 1st below), underdeveloped [thumb hypoplasia], but the anomaly may also manifest as a nonopposable, triphalangeal finger-like digit [first-web [handresearch.com]

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Acrootoocular Syndrome

Saudi Medical Journal 26(7): 1161; Author Reply 1161-2, 2005 Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. [eurekamag.com]

shoulders, and nipple anomalies Typical CHARGE syndrome 4 Major criteria or 3 Major 3 Minor Probable/possible CHARGE syndrome One or two major several minor features The [entokey.com]

Limb malformations are seen in 40–50% which include radial anomalies, including thumb aplasia/hypoplasia, polydactyly and lower limb anomalies. [academic.oup.com]

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Microphthalmia Type Lenz

These include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Limbs. [ncbi.nlm.nih.gov]

Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated [ncbi.nlm.nih.gov]

Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. [ncbi.nlm.nih.gov]

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Fibular Dimelia-Diplopodia Syndrome

thumb Proximally set thumb Thumb ankylosis Thumb duplication/distal bifid thumb phalangeal bone Thumb hypoplasia/aplasia/absence Trident hand/split hand/abnormal median ray [readbag.com]

shoulders 9 of 39 www.orphanet.net/ Thesaurus of Clinical Signs and Symptoms Anomalies of chest/thorax/trunk (continued) Short rib cage/thorax Sternal/sternum anomalies Pectus [readbag.com]

Thick/dowel fingers Thumb anomalies (excluding hypoplasia) Broad/bifid thumb Clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large Fingerlike/triphalangeal [readbag.com]

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Hypergonadotropic Hypogonadism - Partial Alopecia

[…] hepatic ductular Hypoplasia of the tibia with polydactyly Hypoplastic left heart syndrome Hypoplastic right heart microcephaly Hypoplastic thumb mullerian aplasia Hypoplastic [thefullwiki.org]

Micrognathia and sloping shoulders may mimic atypical progeroid phenotype. [medcraveonline.com]

triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Neutral lipid [checkrare.com]

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Teebi-Naguib-Al Awadi Syndrome

Figure 2 Showing limb anomalies due to fetal causes (single gene disorders). a) Triphalangeal and distally displaced left thumb (short arrow) with thenar muscles hypoplasia [annsaudimed.net]

shoulders Growth Height: short stature, proportionate Skeletal Spine: vertebral fusion (rare) Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum absent 12th rib [malacards.org]

Down-sloping shoulders MedGen UID: 346461 •Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

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Syndactyly

Thumb Hypoplasia Classification These tables and images were adapted from a 2004 paper addressing radial ray digit defects and thumb hypoplasias. [peds.ufl.edu]

shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Sensorineural hearing impairment [mendelian.co]

Congenital Hand Defects Cleft Hand Macrodactyly Radial Club Hand Syndactyly Thumb Duplication Thumb Hypoplasia Toe to Hand Transfer Short QA What is syndactyly? [sparshhospital.com]

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Frontonasal Dysplasia

Characteristics of Treacher Collins and Nager syndromes include: Hypoplasia of the cheek bones Retrusive lower jaw and chin Downward slanting of the eyes Lower eyelid and [facesplus.com]

shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline [mjdrdypu.org]

shoulders, umbilical hernia 4021 r,l a ACC Mild (Delta phalanx digit one right hand) lf(2,3) Left eye only r,l Mild pectus excavatum, duplication of distal phalanx r thumb [doi.org]

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Leri Pleonosteosis

Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia; renal ectopia and eye defect. Am J Med Genet. 1984;17:753â “762. [9.]. McKusick VA. [scipers.com]

shoulders; flat feet. [dentisty.org]

[…] dysgenesis and hydroureters; dental anomalies; hypospadias and bilateral cryptorchidism; severe speech impairment; shortness of stature; long, cylindrical, and thin thorax ; sloping [dentisty.org]

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Acrorenal Mandibular Syndrome

Limb malformations are seen in 40–50% which include radial anomalies, including thumb aplasia/hypoplasia, polydactyly and lower limb anomalies. [academic.oup.com]

The collarbone may be underdeveloped or malformed (dysplastic) giving the appearance of sloping shoulders. [rarediseases.org]

shoulders High pitched voice Brisk reflexes Polyuria Hyperglycemia Hypoplasia of the brainstem Pectus excavatum Dysarthria Edema Confusion Visual field defect Chronic kidney [mendelian.co]

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Acro-Pectoral Syndrome

Thumb hypoplasia management • In type I : patient not always in need for surgical intervention but some time deepning of 1st web is needed. • In type II : five specific problems [de.slideshare.net]

Mildest forms include clinodactyly, limited supination, and sloping shoulders. [emedicine.medscape.com]

[…] of hypoplasia to a relatively long triphalangeal thumb lying in the same plane as the fingers. [indianpediatrics.net]

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Congenital Upper Palpebral Retraction

Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet. 1984;17:753–62. PubMed CrossRef Google Scholar 37. [link.springer.com]

Sloping narrow shoulders, hypoplasia of the radius and radio-ulnar synostosis have been noted in some cases. [oandplibrary.org]

hypoplasia to most severely a phocomelic limb (similar to that seen in thalidomide cases), has been found. [rarediseases.org]

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Hamamy Syndrome

[…] nerve hypoplasia Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyostotic fibrous dysplasia Polysyndactyly Popliteal pterygium syndrome [se-atlas.de]

shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe [malacards.org]

shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow [rarediseases.info.nih.gov]

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Ruijs Aalfs Syndrome

OMIM ID Human Disease OMIM:312190 Radial Aplasia, X-Linked OMIM:179200 Radial Heads, Posterior Dislocation of OMIM:179250 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias [informatics.jax.org]

Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders. [ncbi.nlm.nih.gov]

[…] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping [familydiagnosis.com]

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Gingival Fibromatosis-Progressive Deafness Syndrome

[…] of the nails on the thumbs. [docslide.com.br]

shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number of teeth Conductive hearing impairment [mendelian.co]

triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Neutral lipid [checkrare.com]

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Gorlin-Chaudhry-Moss Syndrome

umbilical hernia, and hypoplasia of labia majora are also observed. [orpha.net]

shoulders, and immobile thumbs), neurologic or central nervous system anomalies (medulloblastoma, meningioma, agenesis of the corpus callosum, congenital hydrocephalus, and [hindawi.com]

Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases [orpha.net]

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Proximal Symphalangism

What is the treatment of thumb hypoplasia with an absent carpometacarpal (CMC) joint? [cram.com]

She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad. [tiptiktak.com]

Thumb: absent or hypoplastic Wrist: radially deviated, flexed, pronated -- UNSTABLE Forearm: radius hypoplastic or absent, ulna short bowed Elbow: STABLE, maybe stiff, hypoplasia [brainscape.com]

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Hypertelorism

[…] vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Duplication of thumb phalanx Cutaneous syndactyly of toes Long palpebral fissure Horizontal [mendelian.co]

shoulder girdle deformity, and longitudinal ridging of nails in association with various truncal and extremity anomalies. [ncbi.nlm.nih.gov]

hypoplasia Optic nerve hypoplasia Hemimegalencephaly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal [mendelian.co]

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Hydroureter

Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. [ncbi.nlm.nih.gov]

Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated [ncbi.nlm.nih.gov]

Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated [ncbi.nlm.nih.gov]

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Parietal Foramina with Cleidocranial Dysplasia

& great toes Absence/hypoplasia of thumbs, halluces & distal phalanges Gracile bones Brain malformations CDAGS syndrome (OMIM 603116) Unknown AR Craniosynostosis, delayed [ncbi.nlm.nih.gov]

[…] are narrow and down sloping. [jnsbm.org]

85%). 3D CT images reveal pansynostosis, lateral plain film shows thumb-printing (nonspecific for increased ICP), and sagittal CT shows Chiari malformation (asymptomatic) [plasticsurgerykey.com]

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Distal Symphalangism

Whites need genetic work-up Macrodactyly- Thumb hypoplasia classified by Blauth. Type I small thumb: no treatment. Type II adduction, floppy, normal skeleton. [eorif.com]

shoulder/hypermobile shoulders Sclerotic/hyperostotic facial bones Hypotonia Thin lips Pectus excavatum (funnel chest) Other skull abnormality Movement disorder - dystonia [head-face-med.biomedcentral.com]

[…] of the thumb Abnormality of tibia morphology Narrow nasal bridge Patellar dislocation Abnormality of the ulna Fibular hypoplasia Areflexia Stiff shoulders Chess-pawn distal [mendelian.co]

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Oculo-Palato-Cerebral Syndrome

[…] nerve hypoplasia Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyostotic fibrous dysplasia Polysyndactyly Popliteal pterygium syndrome [se-atlas.de]

Note the slender neck and the sloping shoulders. 416 F R Y D M A N E T A L focal atrophy at the left temporal lobe and moderate ventricular dilatation. Flg. 2. [myslide.es]

In addition, one patient has bilateral ... 460 Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia ... [biomedsearch.com]

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Micrognathism

The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the [ncbi.nlm.nih.gov]

As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases the shoulders can be made to meet in the [findzebra.com]

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

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Habrodysplasia

Both patients show aplasia of the great toes and hypoplasia of the thumbs. [karger.com]

Hayden can barely bend forward, and he cannot raise his arms much above his shoulders. Once down that slope, he may not be able to get back up. [nytimes.com]

Hypoplasia or aplasia and fibular deviation have been described in almost all patients and hypoplasia of the thumbs in about half of the patients. [iofbonehealth.org]

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Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

[…] of the thumb Absent thumb Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Pyloric stenosis Dermal atrophy Neoplasm of the skin Sarcoma Telangiectasia [mendelian.co]

shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Growth [rarediseases.info.nih.gov]

These include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Limbs. [ncbi.nlm.nih.gov]

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Skeletal Dysplasia

Clubbing of the hand is suggestive of the spectrum of “radial ray” anomalies, which include an abnormal thumb (Holt-Oram syndrome), hypoplasia and absence of the thumb, and [pubs.rsna.org]

As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the [ghr.nlm.nih.gov]

Platyspondylia, cervical kyphos, short ribs, dysplastic vertebrae, bifid humerus, glenoid hypoplasia SLC26A2 AR Atelosteogenesis type III (# 108721) Polydactyly, narrow auditory [scielo.br]

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Colobomatous Microphthalmia

[…] hemimelia, bilateral Radial hemimelia, unilateral Schizencephaly Septo-optic dysplasia Solitary median maxillary central incisor syndrome Syndactyly type 4 Triphalangeal thumb [csbg.cnb.csic.es]

These may include a sideways and front-to-back curvature of the spine (kyphoscoliosis), narrow and/or sloping shoulders, underdeveloped collarbones (hypoplastic clavicles) [rarediseases.org]

[…] of maxillary lateral incisor Aggressive behavior Anal atresia Anophthalmia Bicuspid aortic valve Camptodactyly Ciliary body coloboma Cleft upper lip Dental crowding Down-sloping [dovemed.com]

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Schwartz-Lelek Syndrome

Congenital contracture of right gastrocnemius Congenital short quadriceps Congenital shortening of tendon Congenital trigger finger and trigger thumb Congenital trigger thumb [icd9data.com]

shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. [mendelian.co]

(present in 98%) Little finger rarely affected Thumb nail may be absent, bifid or hemiatrophic Absence or hypoplasia of patella May present with recurrent dislocation Associated [flinders.edu.au]

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Microdontia

[…] of the thumb Basal cell carcinoma Osteosarcoma Squamous cell carcinoma Neoplasm of the skin Sarcoma Telangiectasia Skin vesicle Cutaneous photosensitivity Growth hormone [mendelian.co]

shoulder/hypermobile shouldersSclerotic/hyperostotic facial bonesHypotoniaThin lipsPectus excavatum (funnel chest)Other skull abnormalityMovement disorder - dystonia/chorea [ncbi.nlm.nih.gov]

shoulders Restlessness Facial cleft Obsessive-compulsive behavior Hallux valgus Abnormal renal morphology Megalocornea High hypermetropia Hypoplasia of the zygomatic bone [mendelian.co]

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