Flexion contracture, and Interphalangeal joint contracture of finger

Diseases related with Flexion contracture and Interphalangeal joint contracture of finger

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

Top matches:

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

DIGITOTALAR DYSMORPHISM Is also known as ulnar drift, hereditary|da1|distal arthrogryposis type 1|da1a

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly
  • Joint stiffness


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIGITOTALAR DYSMORPHISM

Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME Is also known as baird syndrome|absence of dermatoglyphics-congenital milia syndrome

Related symptoms:

  • Camptodactyly of finger
  • Skin rash
  • Abnormal blistering of the skin
  • Thin skin
  • Thickened skin


SOURCES: ORPHANET MENDELIAN

More info about ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).

CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as carney complex variant

Related symptoms:

  • Short stature
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly of finger
  • Freckling


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Other less relevant matches:

Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

SYNDACTYLY TYPE 4 Is also known as sd4|haas type syndactyly|polysyndactyly, haas type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Camptodactyly of finger
  • Toe syndactyly
  • Postaxial polydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 4

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

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE Is also known as epidermolysis bullosa junctionalis, progressive|epidermolysis bullosa junctionalis, non-herlitz type|epidermolysis bullosa junctionalis, disentis type|epidermolysis bullosa junctionalis, severe nonlethal|epidermolysis bullosa, generalized atrophic benign|

Related symptoms:

  • Abnormality of the dentition
  • Alopecia
  • Scarring
  • Camptodactyly of finger
  • Nail dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Is also known as lgmd2a|muscular dystrophy, limb-girdle, type 1i|lgmd1i|limb-girdle muscular dystrophy due to calpain deficiency|primary calpainopathy

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

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

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

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Syndactyly Uncommon - Between 30% and 50% cases
Talipes equinovarus Rare - less than 30% cases
Finger syndactyly Rare - less than 30% cases
Short tibia Rare - less than 30% cases

Other less frequent symptoms

Patients with Flexion contracture and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

2-3 toe syndactyly Triphalangeal thumb Limitation of joint mobility Clinodactyly of the 5th finger Short stature Abnormality of the dentition Abnormal blistering of the skin Milia Joint contracture of the hand Narrow mouth Distal arthrogryposis Ulnar deviation of finger Arthrogryposis multiplex congenita Calf muscle hypertrophy Absent distal interphalangeal creases 4-5 toe syndactyly Metacarpal synostosis 3-4 finger syndactyly Generalized muscle weakness Carpal synostosis Elbow flexion contracture Cutaneous finger syndactyly Short distal phalanx of finger Scapular winging Back pain Abnormality of the foot Difficulty climbing stairs Brachydactyly Limb-girdle muscular dystrophy Pectoralis amyotrophy Pelvic girdle amyotrophy Scapular muscle atrophy Toe walking Congenital finger flexion contractures Hamstring contractures Wrist flexion contracture Muscle fiber splitting Ankle contracture Spinal rigidity 3-4 toe syndactyly Preaxial hand polydactyly Metatarsal synostosis Microcephaly Knee dislocation Hammertoe Microretrognathia Absence seizures Hip dysplasia Hip dislocation Autistic behavior Intellectual disability, moderate Autism Intellectual disability, mild Intellectual disability, severe Muscular hypotonia Scoliosis Generalized hypotonia Fused fourth and fifth metacarpals Global developmental delay Seizures Intellectual disability Fibular duplication Increased fibular diameter Abnormality of fibula morphology Depressed nasal tip Aplasia/Hypoplasia of the thumb Muscular dystrophy Bowing of the long bones Postaxial hand polydactyly Deviation of toes Enlarged proximal interphalangeal joints Lower limb muscle weakness Muscle weakness Hyperlordosis Amniotic constriction ring Supernumerary metacarpal bones 6 metacarpals Cutaneous syndactyly of toes Foot polydactyly Hand polydactyly Cutaneous syndactyly Postaxial polydactyly Toe syndactyly Polydactyly Cardiac myxoma Trismus Freckling Abnormal dermatoglyphics 1-5 finger complete cutaneous syndactyly Hypohidrosis Thickened skin Thin skin Skin rash Contractures involving the joints of the feet Limb joint contracture Overlapping fingers Abnormality of the hip bone Rocker bottom foot Adducted thumb Talipes Joint stiffness Camptodactyly 1-5 finger syndactyly Hypertelorism Myalgia Skin vesicle Proximal muscle weakness Difficulty walking Elevated serum creatine phosphokinase Myopathy Gait disturbance Skeletal muscle atrophy Pain Palmar hyperhidrosis Loss of eyelashes Oral mucosal blisters Plantar hyperkeratosis Fragile nails Atrophic scars Clinodactyly Dermal atrophy Hypoplasia of dental enamel Nail dysplasia Hypodontia Carious teeth Nail dystrophy Scarring Alopecia Absent middle phalanx of 5th finger 4-5 finger syndactyly Abnormality of limb bone morphology Short 5th finger Short toe Atypical absence seizures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Apraxia, related diseases and genetic alterations Myopia and Single transverse palmar crease, related diseases and genetic alterations Motor delay and Oligohydramnios, related diseases and genetic alterations