Scoliosis, and Abnormality of the skeletal system

Diseases related with Scoliosis and Abnormality of the skeletal system

In the following list you will find some of the most common rare diseases related to Scoliosis and Abnormality of the skeletal system that can help you solving undiagnosed cases.


Top matches:

Low match EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO


EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Low match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6


Related symptoms:

  • Scoliosis
  • Kyphosis
  • Hemivertebrae
  • Spinal canal stenosis
  • Thoracic scoliosis


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2


Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Mitral regurgitation
  • Cutis laxa
  • Hyperextensible skin
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

Low match MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13


Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 Is also known as myasthenic syndrome, congenital, with tubular aggregates 2|cmsta2

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3


Related symptoms:

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28


Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

Low match OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19


Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).

Related symptoms:

  • Short stature
  • Scoliosis
  • Pectus excavatum
  • Severe short stature
  • Kyphoscoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56


EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I


Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I Is also known as charcot-marie-tooth neuropathy, axonal, type 2l|charcot-marie-tooth disease, axonal, autosomal dominant, type 2l|cmt2i

Related symptoms:

  • Scoliosis
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I

Top 5 symptoms//phenotypes associated to Scoliosis and Abnormality of the skeletal system

Symptoms // Phenotype % cases
Global developmental delay Rare - less than 30% cases
Seizures Rare - less than 30% cases
Peripheral axonal neuropathy Rare - less than 30% cases
Abnormal vertebral morphology Rare - less than 30% cases
Difficulty walking Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Scoliosis and Abnormality of the skeletal system. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Distal sensory impairment Pes cavus Pectus carinatum Ptosis Abolished vibration sense Sensory impairment Short stature Pain insensitivity Pectus excavatum Spastic gait Lower limb spasticity Impaired tactile sensation Lower limb muscle weakness Postural instability Unsteady gait Kyphoscoliosis Paraplegia Limb muscle weakness Spastic paraplegia Rigidity Babinski sign Hyperreflexia Severe short stature Blue sclerae Osteopenia Status epilepticus EMG: chronic denervation signs Decreased number of large peripheral myelinated nerve fibers Distal amyotrophy Distal muscle weakness Hyporeflexia Areflexia Eyelid fasciculation Obsessive-compulsive trait Poor coordination Broad-based gait Attention deficit hyperactivity disorder Recurrent fractures Anxiety EEG abnormality Hyperactivity Delayed speech and language development Ataxia Intellectual disability Moderately short stature Vertebral wedging Biconcave vertebral bodies Rhizomelia Spasticity Peripheral neuropathy Arachnodactyly Supernumerary vertebral ossification centers Papule Acne Preaxial polydactyly Spina bifida occulta Spina bifida Abnormality of the hair Epidermal acanthosis Nevus Ichthyosis Abnormality of the foot Toe syndactyly Finger syndactyly Pustule Scarring Alopecia Cataract Microcephaly Halitosis Muscle fibrillation Bilateral ptosis Pneumonia Skeletal muscle atrophy Fever Hamartoma Nevus flammeus Slender finger Redundant skin Vertebral segmentation defect Camptodactyly Poor head control Frequent falls Falls Proximal muscle weakness Motor delay Muscle weakness Generalized hypotonia Premature skin wrinkling Hyperextensible skin Epidermal nevus Cutis laxa Mitral regurgitation Cervical kyphosis Butterfly vertebrae Spinal cord compression Thoracic scoliosis Spinal canal stenosis Hemivertebrae Kyphosis Comedo Decreased amplitude of sensory action potentials



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Polymicrogyria, related diseases and genetic alterations Myopia and Hypercholesterolemia, related diseases and genetic alterations Dysarthria and Hypothyroidism, related diseases and genetic alterations Tremor and Underdeveloped nasal alae, related diseases and genetic alterations Visual impairment and Hypoglycemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more