Flexion contracture, and Short distal phalanx of finger

Diseases related with Flexion contracture and Short distal phalanx of finger

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

Top matches:

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

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly
  • Toe syndactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

ANONYCHIA CONGENITA TOTALIS Is also known as anonychia/hyponychia congenita|anonychia totalis

Related symptoms:

  • Short distal phalanx of finger
  • Anonychia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANONYCHIA CONGENITA TOTALIS

Other less relevant matches:

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

Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Top 5 symptoms//phenotypes associated to Flexion contracture and Short distal phalanx of finger

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Short foot Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

High palate Short phalanx of finger Clinodactyly Finger syndactyly Clinodactyly of the 5th finger Micropenis Intellectual disability Thin upper lip vermilion Abnormality of the dentition Cryptorchidism Micrognathia Macrocephaly Short palm Camptodactyly of finger Abnormal facial shape

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Abnormality of the skeletal system Hypermetropia Broad hallux Wide anterior fontanel Convex nasal ridge Proptosis Hearing impairment Muscular hypotonia Long philtrum Microcephaly Dental crowding Broad thumb Protruding ear Smooth philtrum Hypertelorism Macrotia Ventricular septal defect Frontal bossing Cutaneous finger syndactyly Scoliosis 4-5 toe syndactyly Toe syndactyly 3-4 finger syndactyly Cutaneous syndactyly Short middle phalanx of finger Generalized hypotonia Symphalangism affecting the phalanges of the hand Carpal synostosis Upslanted palpebral fissure Abnormality of the foot Joint contracture of the hand Interphalangeal joint contracture of finger Short middle phalanx of the 5th finger Anonychia Cutaneous syndactyly of toes Poor speech Triangular face Pectus carinatum Global developmental delay Cone-shaped epiphysis Bulbous nose Aplasia/Hypoplasia of the middle phalanges of the toes Short metacarpal Absent phalangeal crease Short metatarsal Underdeveloped nasal alae Sparse and thin eyebrow Sparse eyelashes Sparse hair Pulmonary hypoplasia Hyperlordosis Overlapping toe Intestinal malrotation Broad forehead Short philtrum Renal agenesis Abnormal cardiac septum morphology Dandy-Walker malformation Low posterior hairline Relative macrocephaly Cerebellar hypoplasia Abnormality of the nervous system Protruding tongue Arachnoid cyst Broad neck Patent ductus arteriosus Delayed skeletal maturation Atrial septal defect Broad nasal tip Osteopenia Growth delay Cone-shaped epiphyses of the middle phalanges of the hand Short finger Lower limb hyperreflexia Prominent nasal bridge Spastic paraplegia Paraplegia Falls High, narrow palate Tapered finger Hypoplasia of the maxilla Decreased testicular size Decreased body weight Intellectual disability, progressive Large hands Progressive spastic paraplegia Aggressive behavior Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Intellectual disability, moderate Deeply set eye Increased number of teeth Seizures Exostoses Fragile nails Sparse lateral eyebrow Avascular necrosis of the capital femoral epiphysis Leukonychia Long upper lip Pear-shaped nose Coxa magna Accelerated bone age after puberty Type B brachydactyly Shortening of all phalanges of fingers Strabismus Mandibular prognathia Spasticity Cognitive impairment Delayed speech and language development Hyperreflexia Myopia Talipes equinovarus Intellectual disability, severe Absent speech Pectus excavatum Babinski sign Autism Short distal phalanx of toe Otitis media with effusion Distal symphalangism Hyperpigmentation of the skin 6 metacarpals 2nd-5th toe middle phalangeal hypoplasia Cataract Alopecia Arthralgia Limitation of joint mobility Thin skin Large fontanelles Insulin resistance Wormian bones Contracture of the proximal interphalangeal joint of the 5th finger Osteolysis Hyperlipidemia Dermal atrophy Abnormality of the musculature Prematurely aged appearance Absent eyelashes Abnormal eyebrow morphology Progeroid facial appearance Lack of skin elasticity Breast aplasia Y-shaped metacarpals Mesoaxial hand polydactyly Aplasia/Hypoplasia of the clavicles Oligodactyly 2-3 toe syndactyly Ulnar deviation of finger Metacarpal synostosis Absent distal interphalangeal creases 3-4 toe syndactyly Metatarsal synostosis Fused fourth and fifth metacarpals Enlarged proximal interphalangeal joints Deviation of toes Hallux valgus Short 5th metacarpal Hallux varus Short proximal phalanx of finger Short middle phalanx of the 2nd finger Short fifth metatarsal Polydactyly Postaxial polydactyly Finger clinodactyly Abnormality of the hand Postaxial foot polydactyly Preaxial foot polydactyly Aplasia of the middle phalanx of the hand Osteolytic defects of the distal phalanges of the hand Acroosteolysis of distal phalanges (feet) Aplasia/Hypoplasia of the nails Thoracolumbar scoliosis Triangular mouth Mesomelic short stature Narrow nasal tip Hemivertebrae Short long bone Proximal placement of thumb Delayed cranial suture closure Vertebral fusion Tarsal synostosis Synostosis of carpal bones Hypoplastic fingernail Generalized osteosclerosis Short 1st metacarpal Delayed eruption of permanent teeth Absent fingernail Aplasia/Hypoplasia of the middle phalanges of the hand Aplasia/Hypoplasia of the distal phalanges of the toes Distal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the hand Hypoplastic sacrum Absent distal phalanges Proximal symphalangism of hands Narrow naris Depressed nasal tip Depressed nasal bridge Conductive hearing impairment Wide nasal bridge Downslanted palpebral fissures Anteverted nares Short nose Midface retrusion Hernia Severe short stature High forehead Skeletal dysplasia Umbilical hernia Cleft lip Thickened calvaria Wide mouth Dental malocclusion Otitis media Overgrowth Limb undergrowth Gingival overgrowth Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Talipes calcaneovarus


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