Arthritis, and Single transverse palmar crease

Diseases related with Arthritis and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Arthritis and Single transverse palmar crease that can help you solving undiagnosed cases.


Top matches:

Medium match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Low match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Low match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE


Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

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

Low match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Low match MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION


Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.

MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION Is also known as syndactyly, malik-percin type|mssd|syndactyly, type ix|syndactyly type 9

Related symptoms:

  • Pain
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Finger syndactyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION

Low match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH


The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH Is also known as acromesomelic dwarfism

Related symptoms:

  • Short stature
  • Abnormality of the skeletal system
  • Severe short stature
  • Scarring
  • Corneal opacity


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH

Top 5 symptoms//phenotypes associated to Arthritis and Single transverse palmar crease

Symptoms // Phenotype % cases
Flexion contracture Uncommon - Between 30% and 50% cases
Arachnodactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Kyphosis Tapered finger Camptodactyly Hip dislocation High palate Short metacarpal Short thumb Scarring Arthralgia Elbow dislocation Bilateral single transverse palmar creases

Rare Symptoms - Less than 30% cases


Syndactyly Conductive hearing impairment Pes planus Kyphoscoliosis Severe short stature Clinodactyly Pectus excavatum Short palm Symphalangism affecting the phalanges of the hand Widely spaced teeth Muscular hypotonia Ventricular septal defect Hypoplasia of the ulna Macrotia Cubitus valgus Motor delay Synophrys Broad forehead Neurological speech impairment Limb undergrowth Cuboidal metacarpal Acromesomelia Mitral regurgitation Neonatal hypotonia Cutaneous syndactyly Severe short-limb dwarfism Lumbar hyperlordosis Diabetes mellitus Abnormally shaped carpal bones Highly arched eyebrow Thick eyebrow Clinodactyly of the 5th finger Genu valgum Small for gestational age Generalized hypotonia Joint dislocation Finger syndactyly Abnormal facial shape Mandibular prognathia Joint hypermobility Hearing impairment Spina bifida Thin skin Mitral valve prolapse Tall stature Thickened skin Joint hyperflexibility Decreased fetal movement Stroke Joint laxity Hernia Fatigue Growth delay Pain Rheumatoid arthritis Spina bifida occulta Hiatus hernia Hyperhidrosis Joint stiffness Abnormality of the skeletal system High, narrow palate Hypoplastic philtrum Frontal bossing Cat cry Hypertension Acanthosis nigricans Generalized hirsutism Abnormality of the fingernails Abnormality of the dentition Neoplasm Cerebral palsy Slender toe Hoarse voice Depressivity Osteoarthritis Paresthesia Thick lower lip vermilion Childhood-onset truncal obesity Thick corpus callosum Migraine Prominent eyelashes Macrodontia of permanent maxillary central incisor Coarse facial features Anxiety Full cheeks Hypertrophic cardiomyopathy Macroglossia Wide nose Long face High-pitched cry Muscle weakness Chorioretinal dysplasia Truncal obesity Gingivitis Posterior subcapsular cataract Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Vocal cord paralysis Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Microglossia Facial hypotonia Narrow philtrum Macrodontia Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Iris atrophy Misalignment of teeth Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Sleep apnea Broad thumb Growth abnormality Joint contracture of the hand Small nail Toe syndactyly Oval face Overlapping fingers Fetal akinesia sequence Scaphocephaly Akinesia Poor suck Respiratory insufficiency due to muscle weakness Dolichocephaly 2-3 toe syndactyly Polyhydramnios Areflexia Myopathy Adermatoglyphia Cutaneous syndactyly of toes Amniotic constriction ring Aplasia cutis congenita Skin vesicle Hypermelanotic macule Finger clinodactyly Aplasia/Hypoplasia of the thumb Epiphora Corneal opacity Distal femoral bowing Shortening of all middle phalanges of the fingers Mesomelic short stature Radial bowing Short tibia Fibular hypoplasia Hypoplasia of the radius Short long bone Short foot Symphalangism affecting the phalanges of the hallux Synostosis of carpal bones Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the hallux Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Proximal/middle symphalangism of 5th finger Metacarpal synostosis 3-4 finger syndactyly Hallux varus Aplasia/Hypoplasia of the middle phalanges of the hand Chronic pain Short hallux Milia Overfolded helix Acne Dysuria Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Abnormality of the endocrine system Dysmenorrhea Abnormal toenail morphology Broad foot Growth hormone excess Joint swelling Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Pituitary prolactin cell adenoma Macrodactyly Abnormal dermatoglyphics Hyperkeratosis Hypohidrosis Interphalangeal joint contracture of finger Epidermal acanthosis Abnormal blistering of the skin Ectodermal dysplasia Palmoplantar keratoderma Nail dystrophy Papule Skin rash Abnormality of the ankles Broad jaw Patellar dislocation Tarsal synostosis Abnormality of pelvic girdle bone morphology Cognitive impairment Cone-shaped epiphysis Abnormality of the nail Recurrent skin infections Facial asymmetry Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Laryngomalacia Abnormality of skin pigmentation Venous thrombosis Tricuspid regurgitation Vertebral fusion Tibial bowing Limited elbow extension Short thorax Short femoral neck Hallux valgus Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Heart murmur Arthropathy Sparse eyebrow Delayed gross motor development Aortic regurgitation Aortic valve stenosis Sparse and thin eyebrow Rhizomelia Bowing of the long bones Abnormal form of the vertebral bodies Ventricular hypertrophy Thin ribs Short humerus Microdontia Irregular epiphyses Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Ulnar bowing Flattened epiphysis Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Shield chest Irregular vertebral endplates Small epiphyses Enlarged joints Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Thoracic kyphosis Pulmonary arterial hypertension Wide intermamillary distance Shoulder dislocation Ambiguous genitalia Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Adrenal hypoplasia Soft skin Atrophic scars Unilateral renal agenesis Psoriasiform dermatitis Hyperextensible skin Gastrointestinal hemorrhage Increased connective tissue Vesicoureteral reflux Bifid uvula Sensory neuropathy Bruising susceptibility Myalgia Proximal muscle weakness Arrhythmia Skeletal muscle atrophy Peripheral neuropathy Precocious atherosclerosis Muscle fiber splitting Waddling gait Delayed skeletal maturation Delayed eruption of teeth Short distal phalanx of finger Talipes Pulmonic stenosis Platyspondyly Microtia Camptodactyly of finger Hyperlordosis Skeletal dysplasia Abnormality of cardiovascular system morphology Poor wound healing Long philtrum Short neck Talipes equinovarus Quadricuspid aortic valve Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Multiple joint dislocation Sclerotic vertebral endplates Leukopenia Severe global developmental delay Small hand Thick vermilion border Retinal dystrophy Iris coloboma Retinal degeneration Astigmatism Smooth philtrum Delayed puberty Prominent nasal bridge Neutropenia Short philtrum Nyctalopia Retinopathy Wide mouth Paralysis Protruding ear Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Retinal detachment Microcornea Thin upper lip vermilion Clumsiness Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Long eyelashes Open mouth Hypoplasia of the maxilla High myopia Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Prominent nose Intellectual disability, moderate Retrognathia Narrow vertebral interpedicular distance Seizures Cryptorchidism Cataract Sensorineural hearing impairment Strabismus Micrognathia Failure to thrive Nystagmus Microcephaly Global developmental delay Intellectual disability Visual impairment Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Ptosis Depressed nasal bridge Gastroesophageal reflux Microphthalmia Hypothyroidism Reduced visual acuity Rod-cone dystrophy Cerebellar hypoplasia Visual loss Obesity Thrombocytopenia Recurrent infections Dilatation Malar flattening Myopia Behavioral abnormality Blindness Edema Cardiomyopathy Respiratory distress Downslanted palpebral fissures Macrocephaly Optic atrophy Intrauterine growth retardation Shortening of all proximal phalanges of the fingers



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