Flexion contracture, and Short palm

Diseases related with Flexion contracture and Short palm

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

Top 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

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Other less relevant matches:

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

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

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Short palm

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Camptodactyly of finger Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short foot Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Anteverted nares Pectus excavatum Short nose Micromelia Clinodactyly of the 5th finger Short phalanx of finger Depressed nasal bridge Strabismus Severe short stature Short neck Frontal bossing Midface retrusion Proptosis Short long bone Limb undergrowth Upslanted palpebral fissure Abnormal form of the vertebral bodies Cleft palate Cryptorchidism Wide nasal bridge Short metacarpal Downslanted palpebral fissures Platyspondyly Myopia Delayed skeletal maturation Smooth philtrum Small hand Round face Intellectual disability Generalized hypotonia Scoliosis Pectus carinatum High palate Thin upper lip vermilion Global developmental delay Malar flattening Hearing impairment Macrocephaly Joint stiffness Osteopenia Finger syndactyly Muscular hypotonia Short distal phalanx of finger

Rare Symptoms - Less than 30% cases

Hypoplasia of the maxilla Growth delay Avascular necrosis of the capital femoral epiphysis Megalocornea Syndactyly Talipes equinovarus Seizures Talipes Bifid tongue Posterior rib cupping Narrow chest Increased number of teeth Cone-shaped epiphysis Short ribs Recurrent pneumonia Coxa valga Bulbous nose Flared metaphysis Thoracic hypoplasia Protruding ear Hyperlordosis Bell-shaped thorax Thickened skin Macrotia Anterior rib cupping Microcephaly Umbilical hernia Camptodactyly Inguinal hernia Abnormality of the dentition Rhizomelia High, narrow palate Clinodactyly Abnormality of the metaphysis Ptosis Cognitive impairment Epicanthus Congestive heart failure Joint contracture of the hand Respiratory insufficiency Low-set ears Gingival overgrowth Bilateral talipes equinovarus High pitched voice Ventricular hypertrophy Small nail Wide anterior fontanel Tracheal stenosis Aortic valve stenosis Right ventricular hypertrophy Omphalocele Aortic regurgitation Bicuspid aortic valve Abnormality of the ribs Ridged fingernail Narrow mouth High myopia Cataract Abnormality of the penis Euryblepharon Hydrops fetalis Flat face Abnormality of the pinna Skeletal dysplasia Toe walking Plagiocephaly Cardiomegaly Hypoplastic toenails Hypoplastic scapulae Hypoplastic fingernail Protuberant abdomen Broad ribs Metaphyseal cupping Fibular hypoplasia Abnormal diaphysis morphology Naevus flammeus of the eyelid Hypoplastic ischia Long clavicles Broad long bones Thin ribs Narrow greater sacrosciatic notches Full cheeks Thin clavicles Dumbbell-shaped long bone Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Widely patent sagittal suture Patent foramen ovale Hepatomegaly Dilatation Hepatosplenomegaly Wide mouth Hearing abnormality Dysostosis multiplex Specific learning disability Ovoid vertebral bodies Vitreoretinopathy Coxa vara Premature osteoarthritis Sacral dimple Coronal cleft vertebrae Short 5th metacarpal Enlarged joints Beaking of vertebral bodies Pierre-Robin sequence Long eyelashes Meningocele Glossoptosis Oligodontia Synostosis of carpal bones Occipital encephalocele Disproportionate short stature Abnormal joint morphology Hemivertebrae Blue sclerae Epiphyseal dysplasia Prominent forehead Hip dysplasia Hypodontia Downturned corners of mouth Wide nose Hip dislocation Short philtrum Retrognathia Posteriorly rotated ears Hypoplasia of penis Alopecia Hypospadias Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Mixed hearing impairment Prominent supraorbital ridges Mitral stenosis Short metacarpals with rounded proximal ends Curly eyelashes Muscular hypotonia of the trunk Conductive hearing impairment Arthralgia Kyphosis Ventricular septal defect Abnormality of the skeletal system Irregular capital femoral epiphysis Retinal detachment Tricuspid stenosis J-shaped sella turcica Tip-toe gait Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Thickened helices Lack of skin elasticity Feeding difficulties in infancy Otitis media Encephalocele Capillary hemangioma Osteoarthritis Depressed nasal ridge Lumbar hyperlordosis Abnormality of the skin Elbow dislocation Open bite Long palpebral fissure Anodontia Hypoplastic labia minora Hypoplastic labia majora Femoral hernia Fingernail dysplasia Talipes calcaneovarus Epispadias Median cleft lip and palate Clitoral hypoplasia Abnormality of the gingiva Sensorineural hearing impairment Abnormal facial shape Small forehead Pes planus Oral cleft Cleft upper lip Joint hyperflexibility Broad forehead Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Single transverse palmar crease Behavioral abnormality Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Everted lower lip vermilion Delayed eruption of teeth Steatorrhea Abnormal vertebral segmentation and fusion Restrictive ventilatory defect Bowing of the legs Metatarsus adductus Disproportionate short-limb short stature Knee flexion contracture Elbow flexion contracture Abnormality of the cervical spine Hyperextensible skin High anterior hairline Genu recurvatum Broad foot External ear malformation Shawl scrotum Broad palm Telangiectasia of the skin Abnormality of dental morphology Syringomyelia Preaxial foot polydactyly Mesoaxial hand polydactyly 4-5 toe syndactyly 3-4 finger syndactyly Hallux varus Aplasia of the middle phalanx of the hand Short middle phalanx of the 5th finger Postaxial foot polydactyly Y-shaped metacarpals Broad hallux Abnormality of the hand Finger clinodactyly Postaxial polydactyly Abnormality of the foot Polydactyly Contracture of the proximal interphalangeal joint of the 5th finger 6 metacarpals Urticaria Chronic diarrhea Increased susceptibility to fractures Polycystic ovaries Recurrent bacterial infections Skin ulcer Hyperpigmentation of the skin Lymphedema Subcutaneous nodule 2nd-5th toe middle phalangeal hypoplasia Recurrent fractures Malabsorption Coarse facial features Osteoporosis Immunodeficiency Feeding difficulties Failure to thrive Hypoplasia of the odontoid process Epiphyseal stippling Low frustration tolerance Deeply set eye Poor speech Hypermetropia Spastic paraplegia Prominent nasal bridge Intellectual disability, moderate Aggressive behavior Mandibular prognathia Falls Autism Micropenis Babinski sign Absent speech Intellectual disability, severe Hyperreflexia Paraplegia Tapered finger Spasticity Facial hypotonia Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Restlessness Decreased testicular size Multiple cafe-au-lait spots Progressive spastic paraplegia Lower limb hyperreflexia Large hands Intellectual disability, progressive Decreased body weight Interphalangeal joint contracture of finger Delayed speech and language development Shortening of all phalanges of fingers Spinal cord compression Long fibula Triangular shaped distal phalanges of the hand Abnormal calcification of the carpal bones Tracheal calcification Small foramen magnum C1-C2 subluxation Calcification of falx cerebri Atlantoaxial instability Abnormality of the nervous system Broad metacarpals Broad phalanx Hip subluxation Flared iliac wings Spondyloepimetaphyseal dysplasia Abnormality of the neck Progressive calcification of costochondral cartilage Sparse hair Cone-shaped epiphyses of the middle phalanges of the hand Fragile nails Accelerated bone age after puberty Coxa magna Pear-shaped nose Long upper lip Leukonychia Sparse lateral eyebrow Exostoses Triangular face Short finger Short metatarsal Sparse eyelashes Sparse and thin eyebrow Dental crowding Convex nasal ridge Underdeveloped nasal alae Onychogryposis of fingernail


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