Skeletal muscle atrophy, and Hernia

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Muscle weakness
• Flexion contracture

SOURCES: OMIM ORPHANET MENDELIAN

Low match STEINERT MYOTONIC DYSTROPHY

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

• Strabismus
• Muscular hypotonia
• Cataract
• Cryptorchidism
• Skeletal muscle atrophy

SOURCES: ORPHANET MENDELIAN

Low match NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

• Scoliosis
• Micrognathia
• Flexion contracture
• Skeletal muscle atrophy
• Talipes equinovarus

SOURCES: OMIM ORPHANET MENDELIAN

Low match OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

• Short stature
• Generalized hypotonia
• Scoliosis
• Growth delay
• Pain

SOURCES: OMIM MENDELIAN

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

• Global developmental delay
• Short stature
• Nystagmus
• Muscle weakness
• Cataract

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

• Hearing impairment
• Hypertelorism
• Cleft palate
• Cataract
• Cryptorchidism

SOURCES: ORPHANET OMIM MENDELIAN

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

• Muscle weakness
• Muscular hypotonia
• Pain
• Peripheral neuropathy
• Skeletal muscle atrophy

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

• Generalized hypotonia
• Hearing impairment
• Scoliosis
• Sensorineural hearing impairment
• Muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

Low match PERIPHERAL RESISTANCE TO THYROID HORMONES

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

• Muscular hypotonia
• Feeding difficulties
• Constipation
• Hypothyroidism
• Coarse facial features

SOURCES: ORPHANET MENDELIAN

Low match HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

• Muscular hypotonia
• Feeding difficulties
• Constipation
• Hypothyroidism
• Umbilical hernia

SOURCES: ORPHANET MENDELIAN