Camptodactyly: Causes & Reasons

Possible Causes for Camptodactyly

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Camptodactyly of finger MedGen UID: 98041 •Concept ID: C0409348 • Finding The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot [ncbi.nlm.nih.gov]

Coxa Vara

Homepage Rare diseases Search Search for a rare disease Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Disease definition Camptodactyly-arthropathy-coxa-vara-pericarditis [orpha.net]

Entry H00526 Disease Name Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; Jacobs syndrome Description The camptodactyly-arthropathy-coxa vara-pericarditis syndrome [genome.jp]

ORPHA:2848 Classification level: Disorder Synonym(s): Arthropathy-camptodactyly syndrome CACP syndrome Jacobs syndrome Pericarditis-arthropathy-camptodactyly syndrome Prevalence [orpha.net]

Neurogenic Arthrogryposis Multiplex Congenita

Ulnar deviation of the hands, rocker-bottom feet, camptodactyly, sparse dermal ridges and absence of palmar flexion creases are the other components of the fetal akinesia [orpha.net]

Synonyms Arthrogryposis Multiplex Congenita, Distal, Type IIA Camptodactyly-Cleft Palate-Clubfoot Distal Arthrogryposis, Type IIA Disorder Subdivisions None General Discussion [web.archive.org]

Type 3 DA: talipes equinovarus, camptodactyly, short stature, and vertebral abnormalities. [encyclopedia.com]

Tel Hashomer Camptodactyly Syndrome

Tel Hashomer Camptodactyly Syndrome 405 Fig. 7. Camptodactyly, syndactyly, and tapered fingers of RCS. Fig. 8. Fathers fifth finger camptodactyly. [vdocuments.site]

Two new cases with the Tel-Hashomer camptodactyly syndrome have been ascertained in an Indian family. [ncbi.nlm.nih.gov]

If a developmental association between dermatoglyphics and Tel Hashomer camptodactyly can be firmly established, this would probably document that Tel Hashomer camptodactyly [ncbi.nlm.nih.gov]

Cold-Induced Sweating Syndrome Type 1

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. [monarchinitiative.org]

Figure 1 Picture of the child's left hand, showing camptodactyly of index finger and thumb in adduction. [scielo.br]

A round face, broad nose with anteverted nostrils, small mouth, micrognathia and bilateral camptodactyly are typical [5]. [indianpediatrics.net]

Arthrogryposis Multiplex Congenita

[…] the "lack of movement" included limb abnormalities (multiple contractures, clenched hands, and clubbed feet), short umbilical cord, polyhydramnios, pulmonary hypoplasia, camptodactyly [ncbi.nlm.nih.gov]

Ulnar deviation of the hands, rocker-bottom feet, camptodactyly, sparse dermal ridges and absence of palmar flexion creases are the other components of the fetal akinesia [orpha.net]

Synonyms Arthrogryposis Multiplex Congenita, Distal, Type IIA Camptodactyly-Cleft Palate-Clubfoot Distal Arthrogryposis, Type IIA Disorder Subdivisions None General Discussion [web.archive.org]

Oculodentodigital Dysplasia

Camptodactyly of fifth digit Figure 3. Microdontia Figure 4. Camptodactyly and Partial syndactaly of 2 nd and 3 rd toes Figure 5. [oatext.com]

Both hands showed camptodactyly, clinodactyly and brachydactyly of 5th finger. [ncbi.nlm.nih.gov]

Camptodactyly of fifth digit Figure 3. Microdontia Figure 4. [oatext.com]

Freeman-Sheldon Syndrome

Abstract BACKGROUND Freeman-Sheldon syndrome is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly with ulnar deviation [unboundmedicine.com]

[…] with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly [medical-dictionary.thefreedictionary.com]

Eur J Paediatr Dent VL - 16 IS - 4 N2 - BACKGROUND: Freeman-Sheldon syndrome is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly [unboundmedicine.com]

Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

Camptodactyly of toe Congenital diaphragmatic hernia Diaphragmatic eventration Down-sloping shoulders Dysplastic patella Exostosis of external ear canal Flexion contracture [ncbi.nlm.nih.gov]

[…] syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly [orpha.net]

Gastrointestinal Diaphragmatic hernia Genitourinary Absence of labia majora Cryptorchidism Hypospadias of the male genitalia Limbs Abnormality Dislocated radial head Pterygia plus camptodactyly [datagenno.com]

Arthrogryposis Syndrome

雑誌 Hum Mutat 27:213 (2006) DOI: 10.1002/humu.9399 文献 PMID: 16037531 著者 Offiah AC, Woo P, Prieur AM, Hasson N, Hall CM タイトル Camptodactyly-arthropathy-coxa vara-pericarditis [genome.jp]

Contractures of the upper limbs typically manifest as overlapping fingers, camptodactyly, and ulnar deviation. [ojrd.biomedcentral.com]

The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity called ulnar deviation in [icdlist.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

Signs and Symptoms Camptodactyly of finger ... ... [familydiagnosis.com]

7.5%) Occasional (29-5%) HP:0011800 35 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520 36 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601 37 camptodactyly [malacards.org]

Showing of 66 | 80%-99% of people have these symptoms Abnormality of the mandible Abnormality of the lower jaw bone 0000277 Arthrogryposis multiplex congenita 0002804 Camptodactyly [rarediseases.info.nih.gov]

Melhem-Fahl Syndrome

[…] syndrome Mesangial sclerosis, diffuse Mesenteric ischemia Mesenteric panniculitis Mesodermal defects lower type Mesomelia synostoses Mesomelia Mesomelic dwarfism cleft palate camptodactyly [statemaster.com]

Mesodermal defects lower type Mesomelic dwarfism Langer type Mesomelic dwarfism Nievergelt type Mesomelic dwarfism Reinhardt Pfeiffer type Mesomelic dwarfism cleft palate camptodactyly [mindmappedia.com]

[…] vara-pericarditis syndrome Camptodactyly-Ichthyosis Syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome CANOMAD Syndrome Cantalamessa Baldini Ambrosi Syndrome [rgd.mcw.edu]

Goldberg-Shprintzen Syndrome

The novel findings in this instance are of foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes, which have not been previously described in Goldberg-Shprintzen [ncbi.nlm.nih.gov]

[…] genetics Volume 91 Pagination 950–957 Date Published nov Abstract Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly [ressources.france-bioinformatique.fr]

Postaxial Oligodactyly, Tetramelic

The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. [mendelian.co]

[…] joint contractures and facial skeletal dysplasia * Camptodactyly syndrome Guadalajara type 1 * Camptodactyly syndrome Guadalajara type 2 * Camptodactyly taurinuria * Camptodactyly [medicalgeek.com]

[…] of fingers Camptodactyly-tall stature-scoliosis-hearing loss syndrome Camurati-Engelmann disease Cardiac anomalies-developmental delay-facial dysmorphism syndrome Cardiocranial [se-atlas.de]

Distal Symphalangism

A Japanese family in which four patients in three generations had distal symphalangism associated with camptodactyly is reported. [ncbi.nlm.nih.gov]

Distal symphalangism associated with camptodactyly. [jmg.bmj.com]

Free Abstract A Japanese family in which four patients in three generations had distal symphalangism associated with camptodactyly is reported. [jmg.bmj.com]

Coxoauricular Syndrome

Syndrome 19 Camptodactyly Arthropathy Pericarditis Syndrome 19 Pericarditis Arthropathy Camptodactyly Syndrome 19 Arthropathy Camptodactyly Syndrome 19 Familial Fibrosing [malacards.org]

She had camptodactyly of the third and fourth fingers bilaterally and foot deformities. [nature.com]

1; CAMPD1 OMIM:208250 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome; CACP OMIM:211965 Camptodactyly-Ichthyosis Syndrome OMIM:602612 Camptodactyly, Myopia, and [informatics.jax.org]

Arthrogryposis - Renal Dysfunction - Cholestasis Syndrome

Synonyms Arthrogryposis Multiplex Congenita, Distal, Type IIA Camptodactyly-Cleft Palate-Clubfoot Distal Arthrogryposis, Type IIA Disorder Subdivisions None General Discussion [web.archive.org]

Ulnar deviation of the hands, rocker-bottom feet, camptodactyly, sparse dermal ridges and absence of palmar flexion creases are the other components of the fetal akinesia [orpha.net]

Multiple ankyloses, camptodactyly, facial anomalies and pulmonary hypoplasia. In: Vinken PJ, Bruyn GW, Eds. Handbook of clinical neurology. [web.archive.org]

Stuve-Wiedemann Syndrome

Clinical characteristics of SWS include bowing of the long bones (bent-bone dysplasia), camptodactyly, deformities of joints and extremities, facial dysmorphism, hypotonia [ai-online.info]

In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and [rarediseases.oscar.ncsu.edu]

Abstract Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by bowing of the long bones, camptodactyly, respiratory distress, hyperthermic episodes and early [ncbi.nlm.nih.gov]

Congenital Contractural Arachnodactyly

Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. [ncbi.nlm.nih.gov]

Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly [symptoma.com]

These individuals usually have crumpled ears, camptodactyly with ulnar deviation of the fingers, adducted thumbs, limited elbow and/or knee extension, and hypoplasia of the [ncbi.nlm.nih.gov]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinna, camptodactyly, prominent heels, coxa valga, kyphosis, and flexure contracture of the elbows [cags.org.ae]

Other important features include contractures at elbow and knee, camptodactyly and rocker bottom feet. [indianpediatrics.net]

Symptoms The main symptoms are following: Abnormal nasal morphology Cognitive impairment Aplasia/Hypoplasia affecting the eye Camptodactyly of finger Hypertonia Aplasia/Hypoplasia [curerator.com]

Weaver Syndrome

From Wikidata Jump to navigation Jump to search Human disease WEAVER-LIKE SYNDROME Weaver-Williams syndrome WEAVER SYNDROME; WVS Camptodactyly-overgrowth-unusual facies syndrome [wikidata.org]

About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Camptodactyly - overgrowth - unusual facies, Camptodactyly-overgrowth-unusual [rareguru.com]

J Pediatr 94: 93–95 Google Scholar Weaver DD, Graham CB, Thomas IT, Smith DW (1974) A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly [link.springer.com]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

[…] syndrome Bohring-Opitz syndrome Bone marrow failure syndrome Brachydactyly Brachydactyly-syndactyly syndrome Branchiooculofacial syndrome C syndrome Campomelic dysplasia Camptodactyly-arthropathy-coxa [qlinics.com]

Craniofacial-skeletal-dermatological dysplasia, Crouzon syndrome, Jackson-Weiss syndrome, Lacrimoauriculodentodigital syndrome, Pfeiffer syndrome FGFR3 Achondroplasia, Camptodactyly [genda.com.ar]

[…] of fingers Camptodactyly-tall stature-scoliosis-hearing loss syndrome Camurati-Engelmann disease Cardiac anomalies-developmental delay-facial dysmorphism syndrome Cardiocranial [se-atlas.de]

Mononen-Karnes-Senac Syndrome

[…] dysmorphism, camptodactyly and skeletal anomalies. [pubcasefinder.dbcls.jp]

Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia 0 *Bone Diseases, Developmental *Fibrous Dysplasia of Bone *Hand Deformities, Congenital *Muscular Diseases [reference.md]

Metaphyseal Acroscyphodysplasia

Camptodactyly syndrome Guadalajara type 1 0 *Hand Deformities, Congenital. [reference.md]

TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and [mendelian.co]

[…] syndromic • Down syndrome: • Non-aneuopliody syndromic • Fetal skeletal dysplasia • non syndromic • IUGR Clinodactyly Syndactyly Clenched Hand A fetal akinesia sequence (FAS) Camptodactyly [slideshare.net]

Pelviscapular Dysplasia

Camptodactyly joint contractures and facial skeletal dysplasia 0 *Clubfoot *Contracture *Dysostoses *Hand Deformities, Congenital Face/abnormalities. [reference.md]

Osteoporosis Small hand Hypogonadism Congenital cataract Proximal muscle weakness Polyneuropathy Sensory neuropathy Dysmetria Hypoglycemia Myalgia Abnormal pyramidal sign Camptodactyly [mendelian.co]

Ambiguous genitalia, male Ambiguous genitalia in males 0000033 Anterior rounding of vertebral bodies 0008488 Autosomal recessive inheritance 0000007 Bell-shaped thorax 0001591 Camptodactyly [rarediseases.info.nih.gov]

Acheiria, unilateral

Extension of less than 180 degrees at any joint signifies joint contracture (camptodactyly). Figure 1.58. Camptodactyly of fingers in an infant with arthrogryposis. [myfertilityguide.biz]

VIII-Camptodactyly It is a medical condition involving fixed flexion deformity of the interphalangeal joints. [posterng.netkey.at]

Camptodactyly of fingers in an infant with arthrogryposis. Figure 1.59. [myfertilityguide.biz]

Humero-Radial Synostosis

Camptodactyly-little finger Carpal synostosis Cleidocranial dysostosis Clinodactyly with delta phalanx Clinodactyly, with no delta phalanx Congenital abnormal fusion of carpal [emedcodes.com]

Bilateral clinodactyly Bilateral congenital clinodactyly Bilateral radioulnar synostosis Camptodactyly Camptodactyly of bilateral hands Camptodactyly of left hand Camptodactyly [icd10data.com]

Camptodactyly and clinodactyly are occasional features (Herrmann et al. 1969). [rrnursingschool.biz]

Woodhouse-Sakati Syndrome

[…] craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly [orpha.net]

Camptodactyly of fourth and fifth fingers is seen in proband and her brother. [ncbi.nlm.nih.gov]

Camptodactyly of fourth and fifth fingers… CONTINUE READING [semanticscholar.org]

Partial Trisomy 4p Syndrome

* Widely spaced nipples * Absent ribs * Additional ribs * Joint contractures * Behaviour problems Causes - Chromosome 4- Trisomy 4p * Abnormal EEG * Behaviour problems * Camptodactyly [checkorphan.org]

Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. [ncbi.nlm.nih.gov]

Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia [orpha.net]

Tricho-Retino-Dento-Digital Syndrome

TNF-receptor-associated periodic syndrome) Taurodontia absent teeth sparse hair Teebi Naguib Alawadi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly [mindmappedia.com]

Tee-Ten Teebi Kaurah syndrome Teebi Naguib Alawadi syndrome Teebi Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly [wikidoc.org]

Tee–Ten Teebi–Kaurah syndrome Teebi–Naguib–Alawadi syndrome Teebi–Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly [ipfs.io]