Flexion contracture, and Clinodactyly

Diseases related with Flexion contracture and Clinodactyly

In the following list you will find some of the most common rare diseases related to Flexion contracture and Clinodactyly that can help you solving undiagnosed cases.

Top matches:

Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.

ISOLATED CONGENITAL ADERMATOGLYPHIA Is also known as congenital absence of fingerprints|immigration delay disease|fingerprints, absence of

Related symptoms:

  • Flexion contracture
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Ectodermal dysplasia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ISOLATED CONGENITAL ADERMATOGLYPHIA

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

SYNDACTYLY TYPE 3 Is also known as ring and little finger syndactyly|sdty3|syndactyly of fingers 4 and 5|syndactyly of fingers iv and v|sd3

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Clinodactyly
  • Camptodactyly of finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SYNDACTYLY TYPE 3

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Other less relevant matches:

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.

HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME Is also known as werner mesomelic syndrome

Related symptoms:

  • Short stature
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Finger syndactyly
  • Limitation of joint mobility


SOURCES: ORPHANET MENDELIAN

More info about HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Low match BASAN SYNDROME

Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Related symptoms:

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BASAN SYNDROME

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 1

Top 5 symptoms//phenotypes associated to Flexion contracture and Clinodactyly

Symptoms // Phenotype % cases
Camptodactyly of finger Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Interphalangeal joint contracture of finger Camptodactyly Abnormality of the foot

Rare Symptoms - Less than 30% cases

Ulnar deviation of finger Short distal phalanx of finger Carpal synostosis 3-4 finger syndactyly Sensorineural hearing impairment 4-5 toe syndactyly Synostosis of carpal bones Finger clinodactyly Elbow dislocation Abnormality of the wrist Hyperhidrosis Hyperkeratosis Hypertelorism Aplasia of the middle phalanx of the hand Adermatoglyphia Ectodermal dysplasia Hypohidrosis Milia Wide nasal bridge Downslanted palpebral fissures Wide nose High, narrow palate Narrow mouth Short nose Flat face Blepharophimosis Malar flattening Telecanthus Cutaneous syndactyly of toes Depressed nasal bridge Ptosis Abnormal facial shape Micrognathia Hearing impairment Bilateral sensorineural hearing impairment Amniotic constriction ring Aplasia cutis congenita Skin vesicle Hypermelanotic macule Epiphora Overfolded helix Cutaneous syndactyly Abnormal dermatoglyphics Thickened skin Hypoplasia of the maxilla Strabismus Depressed nasal ridge Polydactyly 6 metacarpals Y-shaped metacarpals Contracture of the proximal interphalangeal joint of the 5th finger Mesoaxial hand polydactyly Hallux varus Short middle phalanx of the 5th finger Preaxial foot polydactyly Postaxial foot polydactyly Broad hallux Abnormality of the hand Short phalanx of finger Short foot Postaxial polydactyly Short palm Metacarpophalangeal synostosis Narrow face Limited wrist movement Congenital sensorineural hearing impairment Ulnar deviation of the hand Lacrimal duct atresia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Epidermal acanthosis Proximal/middle symphalangism of 5th finger Pes planus Abnormality of the metacarpal bones Tarsal synostosis Elbow ankylosis Proximal symphalangism Abnormal finger flexion creases Thin skin Joint contracture of the 5th finger Abnormal blistering of the skin 3-4 toe syndactyly Distal symphalangism of hands Abnormal atrioventricular conduction Supraventricular arrhythmia Upper limb muscle weakness Limb muscle weakness Dilated cardiomyopathy Arrhythmia Myopathy Cardiomyopathy Muscle weakness Deviation of toes Enlarged proximal interphalangeal joints Fused fourth and fifth metacarpals Metatarsal synostosis Absent distal interphalangeal creases Short stature Metacarpal synostosis Cutaneous finger syndactyly 2-3 toe syndactyly Joint contracture of the hand Absent middle phalanx of 5th finger 4-5 finger syndactyly Abnormality of limb bone morphology Short 5th finger Short toe Abnormality of the dentition Acral blistering Palmar hyperkeratosis Clubbing Pterygium Abnormal electrophysiology of sinoatrial node origin Limitation of joint mobility Palmoplantar keratoderma Aplasia/Hypoplasia of the radius Single transverse palmar crease Tapered finger Nail dystrophy Papule Skin rash Scarring Radially deviated wrists Long metacarpals 2-3 finger syndactyly Abnormality of the distal phalanx of finger Abnormality of the carpal bones Abnormality of the humerus Ridged nail Abnormality of the ulna Metaphyseal widening Postaxial hand polydactyly Abnormality of the fingernails Elbow flexion contracture Joint stiffness Talipes equinovarus Macrocephaly Fibular duplication Increased fibular diameter Abnormality of fibula morphology Depressed nasal tip Short tibia Aplasia/Hypoplasia of the thumb Preaxial hand polydactyly Triphalangeal thumb Bowing of the long bones 2nd-5th toe middle phalangeal hypoplasia


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