Elbow Contracture & Round Face in Infancy: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Elbow Contracture, Round Face in Infancy,

Negated

None

Unsure

None

Possible Causes

Cold-Induced Sweating Syndrome Type 1

Affected infants may also have underdeveloped muscle tone (hypotonia) and/or an elbow that is permanently fixed in a bent or flexed position (elbow contracture). [rarediseases.org]

face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing [forgottendiseases.org]

He has bilateral elbow and bilateral finger contractures. [neurology.org]

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Weaver Syndrome

[…] of the hand 0009473 Kyphosis Hunched back Round back [ more ] 0002808 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension [rarediseases.info.nih.gov]

[…] hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hydrocele testis 0000034 Hypertonia 0001276 Hypoplastic iliac wing 0002866 Inverted nipples 0003186 Joint contracture [rarediseases.info.nih.gov]

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Baraitser-Winter Syndrome 1

contractures were initially regarded as sufficient by Rivière et al 1 to clinically exclude BRWS in two patients previously assigned to FAS. [ncbi.nlm.nih.gov]

The face is round and flat in infancy. [ncbi.nlm.nih.gov]

The median part of the face is broad with a wide nasal base and marked hypertelorism (39/41–95%). [doi.org]

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Familial Hypospadias

[…] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 [ojrd.biomedcentral.com]

In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing [ojrd.biomedcentral.com]

[…] bones, pectus excavatum, pectus carinatum, superior pectus carinatum/inferior pectus excavatum, scoliosis, genu valgus, recurrent non-traumatic patellar dislocation, mild contractures [ojrd.biomedcentral.com]

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Optic Atrophy-Intellectual Disability Syndrome

contracture Abnormal tibial torsion Hand dysfunction Kyphosis Lordosis Scoliosis Femoral retroversion Torticollis Hip dysplasia Hip contractures Hallux valgus Knee contractures [pediatrics.aappublications.org]

Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. [tsbvi.edu]

One of the three children had thoracic scoliosis contractures of the elbows and knees, and clubfoot. [rarediseases.org]

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Mowat-Wilson Syndrome

[…] of the elbows, dislocation of head of radius, abnormally short ulna and radius, and clinodactyly. [accessanesthesiology.mhmedical.com]

[…] considered Mietens-Weber Syndrome: Autosomal recessive disorder characterized by severe mental retardation, corneal opacity, nystagmus, strabismus, small pinched nose, flexion contracture [accessanesthesiology.mhmedical.com]

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Cole-Carpenter Syndrome

Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal [mendelian.co]

Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis [mendelian.co]

[…] appearance Short neck Ventriculomegaly Cerebellar atrophy High forehead Dandy-Walker malformation Low anterior hairline Spina bifida Plagiocephaly Anterior plagiocephaly Flexion contracture [mendelian.co]

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Non-Syndromic Aplasia Cutis Congenita

[…] eyelashes Knee flexion contracture Short long bone Elbow flexion contracture Bowing of the long bones Short thumb Chorea Colpocephaly Opacification of the corneal stroma [mendelian.co]

face Aciduria Coma Death in infancy Prominent forehead Bifid first metacarpal Flat face Heterogeneous Malabsorption Areflexia Posteriorly rotated ears Glaucoma Jaundice Pulmonary [mendelian.co]

Multiple joint contractures Cortical gyral simplification Sparse and thin eyebrow Prominent occiput Femoral bowing Preaxial polydactyly Diabetes insipidus Lissencephaly Sparse [mendelian.co]

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Metaphyseal Acroscyphodysplasia

Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal [mendelian.co]

[…] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital [se-atlas.de]

Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis [mendelian.co]

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Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

There may be hyperextensibility of wrist and interphalangeal joints but contractures of elbow and knee. [nature.com]

50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round [circ.ahajournals.org]

face, widely spaced eyes, epicanthal fold, simian crease, severe mental retardation, long survival 30–60 VSD, ASD, PDA 22, 155, 156 Deletion 7q11.23 (Williams-Beuren syndrome [circ.ahajournals.org]

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Goldberg-Shprintzen Syndrome

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Char Syndrome

Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal [ehlers-danlos.com]

Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome. [emedicine.medscape.com]

Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive, high-pitched, catlike cry in infancy [emedicine.medscape.com]

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Congenital Iris Coloboma

[…] of the hand Overfolded helix Reduced number of teeth Pyloric stenosis Deep philtrum Dermal atrophy Nasal speech Elbow flexion contracture Short thumb Microdontia Microtia [mendelian.co]

[…] absence of toe Cystic liver disease Urethral obstruction True hermaphroditism Large placenta Postnatal growth retardation Neurological speech impairment Hamartoma Joint contracture [mendelian.co]

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Autosomal Recessive Distal Osteolysis Syndrome

[…] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Intellectual disability Mental deficiency Mental retardation Mental retardation [rarediseases.info.nih.gov]

[…] disability, severe Feeding difficulties in infancy Highly arched eyebrow Apnea Failure to thrive Cataract Short stature Congenital cataract Lumbar hyperlordosis Autosomal [mendelian.co]

[…] flexion contracture 33 HP:0002987 13 knee flexion contracture 33 HP:0006380 14 osteolytic defects of the distal phalanges of the hand 33 HP:0009839 15 metacarpal osteolysis [malacards.org]

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Congenital Non-Progressive Ataxia

[…] arachnodactyly Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type IV Congenital elbow [sanfordresearch.org]

Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. [tsbvi.edu]

2 Cone rod dystrophy Congenital absence/hypoplasia of thumb Congenital adrenal hyperplasia Congenital chloride diarrhea Congenital communicating hydrocephalus Congenital contractural [sanfordresearch.org]

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X-Linked Lethal Multiple Pterygium Syndrome

It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees [diseaseinfosearch.org]

face Death in infancy Pulmonic stenosis Severe global developmental delay Broad forehead Congestive heart failure Ventricular septal defect Hepatomegaly Meningocele Cystic [mendelian.co]

[…] fingers. 0000457 Edema Fluid retention Water retention [ more ] 0000969 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Fetal akinesia sequence 0001989 Flexion contracture [rarediseases.info.nih.gov]

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Cold-Induced Sweating Syndrome Type 2

[…] of the elbows. [nature.com]

16, at the age of 18 years, with camptodactyly of both hands. ( e ) Patient 16, at the age of 18 years, presenting micrognathia, kyphosis, scoliosis and flexion contractures [nature.com]

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Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

[Spine]; Scoliosis (in some patients); [Pelvis]; Hip contractures; [Limbs]; Elbow contractures; Knee contractures; [Hands]; Camptodactyly; Ulnar deviation; Adducted thumbs [findzebra.com]

Craniofacial features: i. round face in infancy, ii. a prominent forehead (70%), iii. hypertelorism (76%), iv. narrow palpebral fissures (79%), v. a long philtrum (91%), vi [fetalultrasound.com]

In infancy, the face is round with disproportionate prominence of forehead and become longer in adolescence, with prominence of the pointed chin. [ojrd.biomedcentral.com]

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Iris Coloboma

contractures were initially regarded as sufficient by Rivière et al 1 to clinically exclude BRWS in two patients previously assigned to FAS. [ncbi.nlm.nih.gov]

The face is round and flat in infancy. [doi.org]

[…] unusual body habitus, which fit the clinical frame of FAS patients. 3, 6, 7 Absence of ocular coloboma and the presence of duplicated halluces and pterygia with knee and elbow [ncbi.nlm.nih.gov]

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Eye Defects - Arachnodactyly - Cardiopathy Syndrome

[…] develop during childhood (especially of elbows, hands and feet) -joint laxity-progressive No joint contractures, joint laxity limited to hands and feet Contractures not common [fetalultrasound.com]

Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. [tsbvi.edu]

[…] to the elbows), genu recurvatum (backward curvature of the legs at the knees), pes planus (flat feet), kyphoscoliosis, and diaphragmatic and inguinal hernias. [merckmanuals.com]

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Ehlers-Danlos Syndrome Type Beasley-Cohen

[…] abortion Adducted thumb Emotional lability Overweight Anuria Stuttering Tryptophanuria Abnormality of the lower limb Pica Hyperlordosis Arthrogryposis multiplex congenita Elbow [mendelian.co]

(joints of the knee, hip and elbow); and hypermobility of distal joints (joints of the ankles, wrists, feet and hands). [38] Periodontal EDS (pEDS) characterized by severe [en.scio.pw]

Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal [ehlers-danlos.com]

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Syndactyly - Polydactyly - Ear Lobe Syndrome

[…] flexion contracture Opisthotonus Limited elbow extension 2-3 toe syndactyly Cubitus valgus Radial deviation of finger Poor suck Sensorimotor neuropathy Sparse scalp hair [mendelian.co]

[…] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital [se-atlas.de]

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Cardiomyopathy - Cataract - Hip Spine Disease Syndrome

Contractures of the hip, knee, ankles, and elbows are common findings within the first year of life. [rarediseases.org]

face Epicanthus Prominent nose Decreased fetal movement Epiphyseal stippling Secundum atrial septal defect Perimembranous ventricular septal defect Generalized neonatal hypotonia [mendelian.co]

Areas commonly affected by muscle contractures include the arms, neck and feet. [nhs.uk]

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Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

[…] flexion contracture Encephalocele Humeroradial synostosis Oligodactyly Calvarial skull defect Occipital encephalocele Cephalocele Limited elbow extension Coxa valga Hypoplasia [mendelian.co]

face Apraxia Abnormal pattern of respiration Optic nerve coloboma Cholestatic liver disease Neoplasm of the liver Congenital hepatic fibrosis Pathologic fracture Meningocele [mendelian.co]

[…] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital [se-atlas.de]

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Marfanoid Habitus with Situs Inversus

Overfolded helix Dolichocephaly Postnatal growth retardation Elbow flexion contracture Ectopia lentis Clubbing Abnormality of the genital system Widely spaced teeth Sacral [mendelian.co]

Prominent metopic ridge Failure to thrive in infancy Spastic diplegia Cupped ear Poor suck Abnormal hair laboratory examination Midface retrusion Nasal speech Pyloric stenosis [mendelian.co]

[…] dimple Narrow palate Hip dysplasia Glioma Vertebral fusion Long fingers Heterotopia Abnormality of hair texture Scarring Cortical dysplasia Elbow dislocation Status epilepticus [mendelian.co]

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Congenital Analbuminemia

[…] extension Elbow flexion contracture Hyperlordosis Abnormal pyramidal sign Hyperhidrosis Anteverted nares Pain Feeding difficulties Peripheral neuropathy Depressed nasal bridge [mendelian.co]

face Abnormality of the foot Protruding ear Trismus Feeding difficulties in infancy Facial palsy Abnormality of the genital system Clinodactyly Syndactyly Long philtrum Fever [mendelian.co]

[…] megacolon Macule Osteoporosis Muscular hypotonia Alopecia Lumbar hyperlordosis Spasticity Global developmental delay Renal cell carcinoma Abnormality of the dentition Limited elbow [mendelian.co]

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Spondyloepimetaphyseal Dysplasia Type Geneviève

Progressively, after birth, multiple joint contractures occur, especially in the shoulders, elbows, hip and interphalangeal joints [ 52 ]. [intechopen.com]

face Ataxia Nevus Thickened skin Ventriculomegaly Hydrocephalus Behavioral abnormality EEG abnormality Sporadic Mental deterioration Acrania Death in infancy Abnormality [mendelian.co]

[…] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital [se-atlas.de]

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Autosomal Dominant Mental Retardation Type 5

(25%); [Limbs]; Elbow contractures (86%); Knee contractures (81%); Subluxation of patella; [Hands]; Arachnodactyly; Camptodactyly; Ulnar deviation of fingers; Adducted thumbs [findzebra.com]

Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. [tsbvi.edu]

[…] arteriosus; Aortic root dilatation CHEST: [Ribs, sternum, clavicles, and scapulae]; Pectus carinatum SKELETAL: Osteopenia; [Spine]; Congenital kyphoscoliosis (45%); [Pelvis]; Hip contractures [findzebra.com]

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Thyro-Cerebro-Renal Syndrome

[…] extension Clubbing Esophagitis Hemangioma Low posterior hairline High myopia Blue sclerae Hypertrichosis Long eyelashes Elbow flexion contracture Aspiration Proximal placement [mendelian.co]

Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. [tsbvi.edu]

Ectrodactyly 2-3 toe syndactyly Abnormality of digit Hiatus hernia Hypoplastic labia majora Oligodactyly Optic nerve coloboma Abnormality of the gastrointestinal tract Limited elbow [mendelian.co]

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Kondoh Syndrome

In addition, she had hearing loss and mild flexion contracture of the right elbow. [genome.jp]

In infancy, the face is round with disproportionate prominence of forehead and become longer in adolescence, with prominence of the pointed chin. [ojrd.biomedcentral.com]

Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome. [emedicine.medscape.com]

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