Flexion contracture, and Decreased body weight

Diseases related with Flexion contracture and Decreased body weight

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

Top matches:

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

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

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

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

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Decreased body weight

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Decreased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Small for gestational age Microcephaly Decreased fetal movement Feeding difficulties Myopathy Respiratory insufficiency Areflexia

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Cataract Poor head control Elevated serum creatine phosphokinase Abnormality of the foot Respiratory insufficiency due to muscle weakness Muscular hypotonia of the trunk Arthralgia Talipes equinovarus Delayed myelination Peripheral neuropathy Motor delay Polyhydramnios Spasticity Lower limb asymmetry Poor suck Akinesia Scaphocephaly Fetal akinesia sequence Overlapping fingers Oval face Short stature Joint contracture of the hand Dolichocephaly Single transverse palmar crease Ectopic ossification in muscle tissue Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Osteopoikilosis Hypertelorism High, narrow palate High palate Atypical scarring of skin Abnormality of the vasculature Neonatal hypotonia Camptodactyly Lack of skin elasticity Arachnodactyly Intellectual disability, mild Psoriasiform dermatitis Delayed skeletal maturation Spinal rigidity Myocardial infarction EMG abnormality Severe muscular hypotonia Cachexia Congenital muscular dystrophy Generalized amyotrophy Neck muscle weakness Talipes Limb-girdle muscle weakness Axial muscle weakness Decreased nerve conduction velocity Congenital contracture Thin ribs Centrally nucleated skeletal muscle fibers Abnormal lower motor neuron morphology Limitation of joint mobility Joint hyperflexibility Congenital cataract Hypocholesterolemia Delayed puberty Ichthyosis Inflammatory abnormality of the skin Scleroderma Erythroderma Blepharitis Immune dysregulation Decreased LDL cholesterol concentration Limb muscle weakness Muscular hypotonia Gait disturbance Congestive heart failure Arrhythmia Hyperlordosis Muscular dystrophy Narrow chest Joint swelling Arthritis Hyperostosis Spastic tetraparesis Hypoplasia of the corpus callosum Cerebellar hypoplasia Cerebral cortical atrophy Respiratory failure Cerebellar vermis hypoplasia Tetraparesis Spinal muscular atrophy Hearing impairment Intellectual disability Seizures Hyperreflexia Absent speech Constipation Abnormality of the cerebral white matter Visual impairment Slender build Intention tremor Broad-based gait Respiratory distress Pes cavus Paralysis Peripheral axonal neuropathy Inability to walk Polyneuropathy Knee flexion contracture Abnormal cranial nerve morphology Hammertoe Decreased motor nerve conduction velocity Decreased muscle mass Axonal degeneration Decreased number of peripheral myelinated nerve fibers Tracheomalacia Vocal cord paralysis Abnormality of eye movement Clonus Dermal atrophy Skeletal dysplasia Abnormal neuron morphology Pain Hypertension Abnormality of the skeletal system Edema Dilatation Joint stiffness Abnormality of the cerebrum Nevus Lymphedema Bone pain Increased bone mineral density Cranial nerve paralysis Hemangioma Growth abnormality Abnormality of the cerebral cortex Small cerebral cortex Oculomotor apraxia Severe global developmental delay Micrognathia Intrauterine growth retardation Ventriculomegaly Cerebellar atrophy Cerebral atrophy Prominent nasal bridge Arthrogryposis multiplex congenita Profound global developmental delay Abnormal cerebellum morphology Gliosis Brain atrophy Neuronal loss in central nervous system Sloping forehead Choanal atresia Cortical gyral simplification Retinal hemorrhage


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