Flexion contracture, and Short neck

Diseases related with Flexion contracture and Short neck

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

Top matches:

LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME Is also known as vuopala disease|laahd

Related symptoms:

  • Growth delay
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME

Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Other less relevant matches:

Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Elevated serum creatine phosphokinase Micrognathia Skeletal muscle atrophy Muscle weakness Spinal rigidity Pain

Rare Symptoms - Less than 30% cases

Rimmed vacuoles Seizures Cerebellar hypoplasia Hypertelorism Pterygium Frequent falls Ptosis Global developmental delay Low-set, posteriorly rotated ears Stiff neck Elbow flexion contracture Knee flexion contracture Abnormal palate morphology Genu valgum Increased variability in muscle fiber diameter Rigidity Areflexia Cardiomyopathy Edema Congenital contracture Akinesia Respiratory insufficiency Hyperlordosis Proximal muscle weakness Fetal akinesia sequence Paucity of anterior horn motor neurons Webbed neck Disproportionate short stature Protuberant abdomen Spinal muscular atrophy Disproportionate short-trunk short stature Limitation of joint mobility Metaphyseal irregularity Hypoplastic ilia Abnormally ossified vertebrae Pseudoepiphyses Recurrent fractures Metaphyseal dysplasia Coxa vara Genu varum Hypoplasia of the musculature Abnormality of the hip bone Abnormality of the thorax Slender long bone Abnormality of the elbow Abnormal form of the vertebral bodies Abnormal cortical bone morphology Enlarged epiphyses Amniotic constriction ring Abnormality of the amniotic fluid Short long bone Abnormality of the ribs Abnormality of the spinal cord Widening of cervical spinal canal Macrocephaly Severe short stature Skeletal dysplasia Short ribs Multiple joint contractures Growth delay Hypertrophic cardiomyopathy Delayed pubic bone ossification Adducted thumb Generalized hypotonia Hip dislocation Generalized muscle weakness Esotropia Decreased fetal movement Torticollis EMG: myopathic abnormalities Generalized amyotrophy Limited neck flexion Slender finger Long toe Pes valgus Diaphragmatic weakness Abnormality of muscle fibers Increased endomysial connective tissue Increased laxity of fingers Hip flexor weakness Scapuloperoneal weakness Enchondroma Arrhythmia Abnormality of the epididymis Pseudoepiphyses of hand bones Hypertension Gait disturbance Dysphagia Congestive heart failure Dilatation Muscular dystrophy Axial muscle weakness Ventricular hypertrophy Left ventricular hypertrophy Scapular winging Dysphonia Back pain Skeletal muscle hypertrophy Limb-girdle muscle weakness Pulmonary hypoplasia Intellectual disability, mild Polyhydramnios Myokymia External ophthalmoplegia Congenital nystagmus Progressive external ophthalmoplegia Thoracolumbar scoliosis Pendular nystagmus Hypoplasia of the pons Saccadic smooth pursuit Ophthalmoplegia Facial myokymia Progressive ophthalmoplegia Horizontal supranuclear gaze palsy Cleft palate Downslanted palpebral fissures Syndactyly Pectus excavatum Abnormality of eye movement Paralysis Craniosynostosis Lower limb muscle weakness Intrauterine growth retardation Abnormal anterior horn cell morphology Severe hydrops fetalis Hyporeflexia Dilated cardiomyopathy Limb muscle weakness Falls Cognitive impairment Lumbar hyperlordosis Progressive muscle weakness Foot dorsiflexor weakness Respiratory insufficiency due to muscle weakness Gowers sign Nystagmus Sensorineural hearing impairment Camptodactyly Hemivertebrae Increased serum beta-hexosaminidase Opacification of the corneal stroma Coarse facial features Pes planus Joint stiffness Pectus carinatum Cardiomegaly Aortic valve stenosis Aortic regurgitation Low-set ears Abnormality of the hand Spondyloepiphyseal dysplasia Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Arthralgia Abnormality of the skeletal system Cutaneous syndactyly Abnormal facial shape Nasal speech Vertebral fusion Hip contracture Distal arthrogryposis Spondylolisthesis Multiple pterygia Microcephaly Agenesis of corpus callosum Myopia Hirsutism Full cheeks Lymphedema Lissencephaly Centrally nucleated skeletal muscle fibers Hand clenching Agyria Hyperextensibility at wrists


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