Wide nasal bridge, and Congenital muscular dystrophy

Diseases related with Wide nasal bridge and Congenital muscular dystrophy

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


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

High match MUSCLE-EYE-BRAIN DISEASE


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

High match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

High match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Medium match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11


GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 Is also known as hyperphosphatasia with mental retardation syndrome 5|hpmrs5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Flexion contracture Neonatal hypotonia Micrognathia Depressed nasal bridge Ventriculomegaly Cryptorchidism Knee flexion contracture Low-set ears Elevated serum creatine phosphokinase Cataract Scoliosis Cleft palate Muscle weakness Myopathy Feeding difficulties Nystagmus Midface retrusion Intellectual disability, profound Intellectual disability, severe Limb-girdle muscular dystrophy Ankle contracture Micropenis Hypertelorism Severe global developmental delay Agenesis of corpus callosum Cerebellar hypoplasia Clinodactyly Short nose Intrauterine growth retardation Bradycardia Elbow flexion contracture Microphthalmia Hearing impairment Respiratory insufficiency Proximal muscle weakness Prominent nasal bridge Kyphosis Downslanted palpebral fissures Gait disturbance Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Camptodactyly Dolichocephaly Hydrocephalus Blepharophimosis High forehead Feeding difficulties in infancy Hypospadias Malar flattening Long philtrum Arthrogryposis multiplex congenita Aplasia/Hypoplasia of the cerebellum Short neck Delayed myelination Sloping forehead Small for gestational age Epicanthus Increased variability in muscle fiber diameter Bilateral cryptorchidism Tented upper lip vermilion Motor delay Respiratory distress Neoplasm Edema Polyhydramnios Postnatal growth retardation Wide nose Deeply set eye Optic atrophy Aplasia/Hypoplasia of the corpus callosum Growth hormone deficiency Holoprosencephaly Prominent forehead Delayed skeletal maturation Frontal bossing Generalized muscle weakness Congenital cataract EEG abnormality Glaucoma Hypoglycosylation of alpha-dystroglycan Hypertonia Increased nuchal translucency Hypoplasia of the corpus callosum Failure to thrive Craniosynostosis Cognitive impairment Strabismus Premature chromatid separation Absent speech Rhabdomyosarcoma Abnormality of the eye Apnea Sensorineural hearing impairment Acute lymphoblastic leukemia Nephroblastoma Myelodysplasia Kyphoscoliosis Ambiguous genitalia Dandy-Walker malformation Short stature Respiratory tract infection Arrhythmia Achilles tendon contracture Abnormal atrioventricular conduction Shoulder girdle muscle weakness Difficulty walking Atrial arrhythmia Lipodystrophy Calf muscle hypertrophy Proximal lower limb amyotrophy Sudden cardiac death Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Atrioventricular block Limb-girdle muscle weakness Syncope EMG: myopathic abnormalities Waddling gait Type 1 muscle fiber atrophy Dilated cardiomyopathy Difficulty climbing stairs Atrial fibrillation Abnormality of vision Facial palsy High palate Hyperlordosis Ptosis Difficulty running Abnormality of the skull Minicore myopathy Muscle fiber necrosis Abnormal lung lobation Functional respiratory abnormality Generalized limb muscle atrophy Abnormality of immune system physiology Internally nucleated skeletal muscle fibers Venous thrombosis Muscle fiber hypertrophy Hypogonadism Bilateral sensorineural hearing impairment Aortic regurgitation Sleep apnea Colon cancer Micromelia Atrioventricular canal defect Hydronephrosis Multiple cafe-au-lait spots Rectus femoris muscle atrophy Macrocephaly Type 1 and type 2 muscle fiber minicore regions Abnormality of the upper limb Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Duodenal atresia Stomach cancer 3-Methylglutaconic aciduria Macroglossia Pterygium Vaginal neoplasm Scrotal hypoplasia External ophthalmoplegia Narrow face Hydrops fetalis Hypsarrhythmia Mask-like facies Decreased fetal movement Elevated alkaline phosphatase Cyanosis Aciduria Webbed neck Single transverse palmar crease Pulmonary hypoplasia Akinesia Epidermoid cyst Axial muscle weakness Nemaline bodies Increased connective tissue Intestinal polyposis Exercise-induced myalgia Subvalvular aortic stenosis Hypocalcemia Type 1 muscle fiber predominance Fetal akinesia sequence Myopathic facies Facial diplegia Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Centrally nucleated skeletal muscle fibers Cystic hygroma Abnormal aortic morphology Abnormality of the genital system Osteolysis Nephrocalcinosis Clinodactyly of the 5th finger Atrial septal defect Intellectual disability, mild Postnatal microcephaly Progressive neurologic deterioration Abnormality of cardiovascular system morphology Abnormal heart morphology Intention tremor Decreased liver function Febrile seizures Hypothyroidism Nail dysplasia Dental malocclusion Small hand High, narrow palate Low-set, posteriorly rotated ears Ventricular septal defect Abnormality of the skeletal system Short palm Deep venous thrombosis Hemangioma Poor suck Trigonocephaly Flat occiput Lower limb hyperreflexia Weak cry Upper limb undergrowth Prolonged partial thromboplastin time Reduced protein S activity Abnormal myelination Type I transferrin isoform profile Pontocerebellar atrophy Abnormal macular morphology Reduced antithrombin III activity Cerebral visual impairment Reduced protein C activity Corneal opacity Dysmetria Short long bone Adrenal hypoplasia Cafe-au-lait spot Multicystic kidney dysplasia Hypertension Ataxia Finger clinodactyly Congenital adrenal hypoplasia Metaphyseal cupping Primary adrenal insufficiency Hepatomegaly Truncal ataxia Metaphyseal dysplasia Adrenal insufficiency Epiphyseal dysplasia Hypercalcemia Microretrognathia Hypercalciuria Rhizomelia Tremor Smooth philtrum Elevated hepatic transaminase Abnormality of skin pigmentation Long face Abnormal pyramidal sign Retinopathy Bulbous nose Ascites Triangular face Gait ataxia Depressed nasal ridge Patent ductus arteriosus Coarctation of aorta Recurrent infections Cerebral atrophy Splenomegaly Short palpebral fissure Cerebellar atrophy Telangiectasia Meningocele Ophthalmoplegia Decreased cervical spine flexion due to contractures of posterior cervical muscles Pelvic girdle muscle weakness Exertional dyspnea Ventricular tachycardia Left ventricular hypertrophy Ventricular hypertrophy Absent muscle fiber emerin Restricted neck movement due to contractures Proximal spinal muscular atrophy Sick sinus syndrome Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Peroneal muscle atrophy Shoulder girdle muscle atrophy Abnormal echocardiogram Paroxysmal supraventricular tachycardia Supraventricular arrhythmia Generalized tonic-clonic seizures Sarcoma Hyperpigmentation of the skin Primary amenorrhea Oligohydramnios Amenorrhea Generalized myoclonic seizures Renal cyst Leukemia Fatiguable weakness of proximal limb muscles Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Immunodeficiency Anteverted nares Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Increased LDL cholesterol concentration Proximal muscle weakness in lower limbs Combined immunodeficiency Joint stiffness Hypertriglyceridemia Myocardial infarction Falls Vertigo Ichthyosis Lower limb muscle weakness Limb muscle weakness Hypertrophic cardiomyopathy Frequent falls Rigidity Dyspnea Pes cavus Pectus excavatum Obesity Congestive heart failure Cardiomyopathy Palpitations Progressive muscle weakness Distal lower limb muscle weakness Spinal rigidity Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Heart block Sprengel anomaly Rimmed vacuoles Mildly elevated creatine phosphokinase Scapular winging Toe walking Myotonia Spinal muscular atrophy Back pain Ventricular arrhythmia Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Bifid scrotum Severe intrauterine growth retardation Joint laxity Osteoporosis Prominent nose Gliosis Neurodegeneration Hirsutism Thin vermilion border Muscular hypotonia of the trunk Macrotia Hyperreflexia Neuronal loss in central nervous system Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Wide intermamillary distance Peripheral demyelination Buphthalmos Long ear Respiratory failure Recurrent respiratory infections Pneumonia Areflexia Talipes equinovarus Second metatarsal posteriorly placed Deep longitudinal plantar crease Miosis Cerebral calcification Osteopetrosis Abnormality of the ear Rocker bottom foot Coxa valga Joint contracture of the hand Insulin resistance Cutaneous photosensitivity Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Multiple renal cysts Visual impairment Abnormality of the cerebral white matter Neurological speech impairment Coloboma Pallor Myoclonus Dilatation Myopia Spasticity Retinal degeneration Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Acute leukemia Abnormality of movement Polymicrogyria Hypoplasia of the pons Abnormality of the voice Retinal dysplasia Megalocornea Retinal atrophy Congenital glaucoma Cortical dysplasia Hemiplegia/hemiparesis Hypoplasia of the brainstem Optic nerve hypoplasia Everted lower lip vermilion Infantile muscular hypotonia Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma EMG abnormality Pachygyria Encephalocele High myopia Epileptic spasms



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