Flexion contracture, and Tall stature

Diseases related with Flexion contracture and Tall stature

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


Top matches:

Low match DISTAL NEBULIN MYOPATHY


Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.

DISTAL NEBULIN MYOPATHY Is also known as nebulin-related early-onset distal myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DISTAL NEBULIN MYOPATHY

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2R


Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Strabismus
  • Behavioral abnormality
  • High forehead


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR

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Other less relevant matches:

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match RAHMAN SYNDROME; RMNS


Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Low match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME


Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

Low match DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME


A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.

DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME Is also known as mtdna deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtdna deletion syndrome with progressive myopathy|mitochondrial dna deletion syndrome with limb-girdle weakness|mitochondrial dna deletion syndrom

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME

Low match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Low match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Top 5 symptoms//phenotypes associated to Flexion contracture and Tall stature

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Slender build Talipes equinovarus Pectus excavatum High palate

Rare Symptoms - Less than 30% cases


Scoliosis Cleft palate Strabismus Pes planus Pectus carinatum Arachnodactyly Disproportionate tall stature Global developmental delay Overgrowth Facial palsy Hypertonia Camptodactyly of finger Ptosis Myopathy Dyspnea Hyperlordosis Respiratory insufficiency Respiratory distress Motor delay Knee flexion contracture Decreased muscle mass Narrow chest Long face Falls Generalized muscle weakness Sensory impairment Waddling gait Decreased fetal movement Lumbar hyperlordosis Open mouth Progressive muscle weakness Frequent falls Muscular dystrophy Narrow face Muscle stiffness Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Easy fatigability Congenital muscular dystrophy Increased variability in muscle fiber diameter Myopathic facies Arthrogryposis multiplex congenita Abnormal cranial nerve morphology Distal muscle weakness Camptodactyly of toe Cataract Peripheral neuropathy Myopia Craniosynostosis Bilateral sensorineural hearing impairment High myopia Interphalangeal joint contracture of finger Joint contracture of the hand Ectopia lentis Osteochondroma Difficulty climbing stairs Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Muscular hypotonia Dysphagia Congestive heart failure Kyphosis Respiratory failure Retrognathia Proximal muscle weakness Difficulty running Centrally nucleated skeletal muscle fibers Joint swelling Wormian bones Palmoplantar hyperkeratosis Redundant skin Patent foramen ovale Clubbing Acne Thickened calvaria Arthropathy Growth hormone excess Heart block Large fontanelles Flushing Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Thickened skin Limitation of joint mobility Neck muscle weakness Pain Thoracic kyphosis Facial diplegia Nemaline bodies Distal lower limb amyotrophy Distal lower limb muscle weakness Myokymia Shoulder girdle muscle atrophy Growth delay Neoplasm Patent ductus arteriosus Skin rash Abnormal heart morphology Delayed skeletal maturation Hyperhidrosis Osteoporosis Osteopenia Coarse facial features Arthralgia Arthritis Erythema Sensorineural hearing impairment Tip-toe gait Microcephaly Hypoplasia of the vagina Bifid scrotum Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Ankyloblepharon Popliteal pterygium Abnormality of the scrotum Scrotal hypoplasia Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Abnormal facial shape Macrocephaly Broad-based gait Abnormality of the dentition Pterygium Spina bifida occulta Neonatal hypotonia Joint contracture of the 5th finger High forehead Vocal cord paralysis Tracheomalacia Protruding ear Decreased number of peripheral myelinated nerve fibers Axonal degeneration Schizophrenia Pyloric stenosis Frontal upsweep of hair Decreased motor nerve conduction velocity Abnormality of the genital system Cryptorchidism Abnormality of the skeletal system Syndactyly Dementia Cleft lip Toe syndactyly Cleft upper lip Bifid uvula Hammertoe Kyphoscoliosis Telecanthus Hearing impairment Exercise intolerance Paralysis Elevated serum creatine phosphokinase Muscular hypotonia of the trunk Difficulty walking Myalgia Areflexia Apnea Ophthalmoplegia Muscle cramps External ophthalmoplegia Skeletal muscle atrophy Sleep apnea Gowers sign Generalized amyotrophy Exertional dyspnea Progressive external ophthalmoplegia Obstructive sleep apnea Limb-girdle muscle weakness Hypomimic face Behavioral abnormality Gait disturbance Peripheral axonal neuropathy Talipes Inability to walk Astigmatism Full cheeks Nevus Amblyopia Accelerated skeletal maturation Curved fingers Thin upper lip vermilion Polyneuropathy Single transverse palmar crease Abnormal vertebral morphology Chess-pawn distal phalanges Bilateral single transverse palmar creases Carpal synostosis Broad foot Thoracolumbar scoliosis Flat acetabular roof Short 1st metacarpal Short lower limbs Aplasia of the middle phalanx of the hand Distal symphalangism of hands Type A1 brachydactyly Subperiosteal bone formation



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