Flexion contracture, and Kyphosis

Diseases related with Flexion contracture and Kyphosis

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

Top matches:

BETHLEM MYOPATHY 2; BTHLM2 Is also known as ehlers-danlos syndrome, myopathic type|edsmyp|eds, myopathic type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 2; BTHLM2

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS Is also known as elhattab-alkuraya syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS

Other less relevant matches:

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

Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

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

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Abnormality of the dentition
  • Brachycephaly


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11

Top 5 symptoms//phenotypes associated to Flexion contracture and Kyphosis

Symptoms // Phenotype % cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Elbow flexion contracture Joint laxity Elevated serum creatine phosphokinase Myopathy

Rare Symptoms - Less than 30% cases

Short neck Hyporeflexia Proximal muscle weakness Hyperlordosis Limb muscle weakness Lower limb muscle weakness Generalized hypotonia Spinal rigidity Lumbar hyperlordosis Progressive muscle weakness Foot dorsiflexor weakness Hypoplasia of the corpus callosum Skeletal muscle atrophy Abnormality of the foot Abnormality of eye movement Intellectual disability, severe Inability to walk Cognitive impairment Knee flexion contracture Fasciculations Motor delay Respiratory insufficiency Facial palsy Hemangioma Intellectual disability, progressive Thick lower lip vermilion Thick vermilion border Iris coloboma Bulbous nose Coloboma Coarse facial features Wide nasal bridge Capillary hemangioma Cataract Horizontal supranuclear gaze palsy Progressive ophthalmoplegia Facial myokymia Saccadic smooth pursuit Myokymia Hypoplasia of the pons Pendular nystagmus Thoracolumbar scoliosis Progressive external ophthalmoplegia Congenital nystagmus External ophthalmoplegia Thoracic kyphosis Ventriculomegaly Growth delay Triangular face Protrusio acetabuli Biconcave vertebral bodies Dentinogenesis imperfecta Vertebral compression fractures Increased susceptibility to fractures Elevated alkaline phosphatase Coxa vara Wormian bones Blue sclerae Abnormality of the skin Osteopenia Ophthalmoplegia Brachycephaly Abnormality of the dentition Short stature Molar tooth sign on MRI Horseshoe kidney Abnormality of the eye Camptodactyly Polydactyly Ventricular septal defect Intrauterine growth retardation Micrognathia Sensorineural hearing impairment Paralysis Rigidity Increased variability in muscle fiber diameter Gowers sign Respiratory insufficiency due to muscle weakness High palate Frequent falls Falls Muscular dystrophy Dilated cardiomyopathy Joint hypermobility Delayed gross motor development Respiratory failure Rimmed vacuoles Congenital muscular dystrophy Cardiomyopathy Global developmental delay Cerebral hypoplasia Intellectual disability, profound Spastic tetraplegia Tetraplegia Microcephaly Spastic paraplegia Muscular hypotonia of the trunk Rectus femoris muscle atrophy Stooped posture Cerebellar hypoplasia Pes cavus Absent speech Nystagmus Ankle contracture Sensory axonal neuropathy Abnormality of the hand Sensorimotor neuropathy Sensory impairment Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Babinski sign Talipes equinovarus Gait disturbance Tremor Peripheral neuropathy Difficulty running Spasticity Myofibrillar myopathy Achilles tendon contracture Nemaline bodies Delayed ability to walk Difficulty walking Behavioral abnormality Vertebral wedging


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