Scoliosis, and Abnormality of the skeletal system

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

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

SOURCES: OMIM MENDELIAN

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).

• Seizures
• Microcephaly
• Scoliosis
• Cataract
• Alopecia

SOURCES: OMIM ORPHANET MENDELIAN

Low match SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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).

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN