Skeletal muscle atrophy, and Wide nasal bridge

Diseases related with Skeletal muscle atrophy and Wide nasal bridge

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Wide nasal bridge that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

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Other less relevant matches:

Medium match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Medium match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Medium match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Medium match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Wide nasal bridge

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Wide nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Nystagmus Scoliosis Flexion contracture Muscular hypotonia Gait disturbance Midface retrusion Arrhythmia Growth delay Cataract High palate Sensorineural hearing impairment Facial palsy Intellectual disability, severe Peripheral neuropathy Epicanthus Spinal muscular atrophy Spasticity Micrognathia Cryptorchidism Microcephaly Short neck Kyphosis Short nose Hepatomegaly Postnatal growth retardation Pes cavus Ataxia Ptosis Limb-girdle muscular dystrophy Feeding difficulties Respiratory insufficiency Muscular dystrophy Abnormal facial shape Decreased nerve conduction velocity Areflexia

Rare Symptoms - Less than 30% cases


Spastic tetraplegia Micropenis Motor delay Myopia Respiratory insufficiency due to muscle weakness Long philtrum Progressive muscle weakness Hypospadias Inguinal hernia Dolichocephaly Esotropia Ichthyosis Arthrogryposis multiplex congenita Limb muscle weakness Joint stiffness Optic atrophy Ventriculomegaly Tremor Frontal bossing Visual impairment Strabismus Tetraplegia Pectus carinatum Proximal spinal muscular atrophy High forehead CNS hypomyelination Congestive heart failure Anteverted nares Coarse facial features EEG abnormality Retinopathy Renal cyst Low-set ears Myoclonus Respiratory tract infection Macrotia Brachycephaly Agenesis of corpus callosum Splenomegaly Hypertelorism Demyelinating peripheral neuropathy Hernia Intellectual disability, mild Myopathy Difficulty climbing stairs Hyporeflexia Proximal lower limb amyotrophy Leukodystrophy EMG: myopathic abnormalities Atrioventricular block Lipodystrophy Calf muscle hypertrophy Hearing impairment Sensory neuropathy Ankle contracture Limb-girdle muscle weakness Achilles tendon contracture Hepatosplenomegaly Abnormal atrioventricular conduction Atrial arrhythmia Cardiomyopathy Limb-girdle muscle atrophy Congenital cataract Knee flexion contracture Proximal muscle weakness in upper limbs Congenital contracture Elevated serum creatine phosphokinase Difficulty walking Proximal muscle weakness Hyperlordosis Dilated cardiomyopathy Sudden cardiac death Syncope Waddling gait Peripheral demyelination Atrial fibrillation Elbow flexion contracture Bradycardia Multiple joint contractures Ambiguous genitalia Hypopigmented skin patches Dandy-Walker malformation Small for gestational age Generalized myoclonic seizures Oligohydramnios Torticollis Generalized tonic-clonic seizures Wide nose Leukemia Severe global developmental delay Aganglionic megacolon Spastic paraparesis Abnormal autonomic nervous system physiology Hypohidrosis Amenorrhea Posteriorly rotated ears Feeding difficulties in infancy White hair Hypoplasia of the cochlea Hypopigmentation of hair Meconium ileus Abnormal eyebrow morphology Blue irides Peripheral hypomyelination Heterochromia iridis White forelock Neonatal asphyxia Ileus Intestinal pseudo-obstruction Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon Alacrima White eyelashes Congenital nystagmus Myelin outfoldings Upslanted palpebral fissure Intrauterine growth retardation Anosmia Cerebellar hypoplasia Clinodactyly Immunodeficiency Malar flattening Hydrocephalus Portal hypertension Depressed nasal bridge Hypoplasia of the semicircular canal Intestinal obstruction Premature graying of hair Cleft palate Neoplasm Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses White eyebrow Umbilical hernia Intellectual disability, profound Recurrent upper and lower respiratory tract infections Behavioral abnormality Delayed speech and language development Failure to thrive Ridged cranial sutures Abnormality of the Eustachian tube Abnormality of nasopharyngeal adenoids Restricted chest movement Incisional hernia Tonsillitis Rod-cone dystrophy Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Absent speech Osteoporosis Wrist flexion contracture Hepatic fibrosis Very long chain fatty acid accumulation Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Impulsivity Rhizomelia Acidosis Abnormality of epiphysis morphology Nephrolithiasis Large fontanelles Abnormality of the face Convex nasal ridge Cirrhosis Nyctalopia Jaundice Mucopolysacchariduria Thoracolumbar kyphosis Primary amenorrhea Acute leukemia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Mandibular prognathia Severe intrauterine growth retardation Acute lymphoblastic leukemia Combined immunodeficiency Bifid scrotum Nephroblastoma Myelodysplasia Sarcoma Hyperpigmentation of the skin Macrocephaly Coma Clubbing of fingers Widely spaced teeth Abnormality of the skull Papilledema Protuberant abdomen Rhinitis Abnormal heart valve morphology Short finger Bowel incontinence Prominent supraorbital ridges Hoarse voice Conductive hearing impairment Thickened skin Osteoarthritis Abnormality of the cardiovascular system Otitis media Abnormality of the skin Prominent nose Urinary incontinence Full cheeks Hirsutism Underdeveloped nasal alae Turricephaly Hypopigmentation of the skin Rimmed vacuoles Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Heart block Sprengel anomaly Spinal rigidity Distal lower limb muscle weakness Mildly elevated creatine phosphokinase Toe walking Myotonia Congenital muscular dystrophy Back pain Ventricular arrhythmia Reduced tendon reflexes Shoulder girdle muscle weakness Proximal muscle weakness in lower limbs Frequent falls Type 1 muscle fiber atrophy Corneal opacity Skeletal dysplasia Hyperkeratosis Delayed skeletal maturation Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal upper limb amyotrophy Supraventricular arrhythmia Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Peroneal muscle atrophy Shoulder girdle muscle atrophy Increased LDL cholesterol concentration Scapular winging Palpitations Abnormality of movement Paroxysmal supraventricular tachycardia Severe short stature Talipes equinovarus Abnormality of the skeletal system Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Sick sinus syndrome Broad-based gait Abnormal echocardiogram Pelvic girdle muscle weakness Difficulty running Exertional dyspnea Ventricular tachycardia Left ventricular hypertrophy Ventricular hypertrophy Asthma Decreased body weight Hypertriglyceridemia Pectus excavatum Myocardial infarction Falls Vertigo Lower limb muscle weakness Hypertrophic cardiomyopathy Rigidity Dyspnea Obesity Coxa vara Sinus tachycardia Vertical nystagmus Metaphyseal cupping Thoracic scoliosis Generalized amyotrophy Short femoral neck Metaphyseal irregularity Neurological speech impairment Progressive visual loss Distal sensory impairment Wide intermamillary distance Abnormality of the fingernails Bilateral single transverse palmar creases Open mouth Interphalangeal joint contracture of finger Decreased fetal movement Hypoplasia of penis Narrow chest Adducted thumb Camptodactyly of finger Abnormality of metabolism/homeostasis Cognitive impairment Abnormal anterior horn cell morphology Decreased sensory nerve conduction velocity Limb tremor Axonal degeneration/regeneration Severe muscular hypotonia Failure to thrive in infancy EMG: chronic denervation signs Hypogonadism Distal amyotrophy Prominent nasal bridge Abnormal pyramidal sign Distal muscle weakness Telecanthus Abnormality of the nervous system Abdominal pain Constipation Proximal placement of thumb Hypertension Skin dimples Microphallus Degeneration of anterior horn cells Tongue fasciculations Thickened nuchal skin fold Myopathic facies Diffuse white matter abnormalities Progressive peripheral neuropathy Thick lower lip vermilion Urinary excretion of sialylated oligosaccharides Long face Peripheral axonal neuropathy Facial asymmetry Abnormality of the cerebral white matter Craniosynostosis Developmental regression Increased urinary O-linked sialopeptides Tapered finger Cherry red spot of the macula Vascular skin abnormality Dysostosis multiplex Short thorax Slurred speech Aminoaciduria Abnormal form of the vertebral bodies Inability to walk Polyneuropathy Motor polyneuropathy 2-3 toe syndactyly Restrictive deficit on pulmonary function testing Aqueductal stenosis Facial diplegia Increased CSF protein Onion bulb formation Partial agenesis of the corpus callosum Infantile spasms Decreased motor nerve conduction velocity Hypoplasia of the maxilla Hemiplegia/hemiparesis Paraparesis Low anterior hairline Sensorimotor neuropathy Abnormality of retinal pigmentation Psychosis Narrow forehead Elevated levels of phytanic acid



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