Micrognathia, and Muscular dystrophy

Diseases related with Micrognathia and Muscular dystrophy

In the following list you will find some of the most common rare diseases related to Micrognathia and Muscular dystrophy that can help you solving undiagnosed cases.

Top matches:

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

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

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Other less relevant matches:

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

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 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 NEU-LAXOVA SYNDROME

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER 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

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Top 5 symptoms//phenotypes associated to Micrognathia and Muscular dystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Seizures Agenesis of corpus callosum Myopathy Congenital muscular dystrophy Cerebellar hypoplasia Microphthalmia Intellectual disability, severe Intrauterine growth retardation Camptodactyly Nystagmus Short stature Cryptorchidism Dandy-Walker malformation Scoliosis Failure to thrive Hypertelorism High palate Kyphosis Cleft palate Hypospadias Edema Short neck Short nose Arthrogryposis multiplex congenita Depressed nasal bridge Clinodactyly Elevated serum creatine phosphokinase Severe global developmental delay Intellectual disability, profound Low-set ears Postnatal growth retardation Neoplasm Sloping forehead Joint contracture of the hand Ambiguous genitalia Epicanthus Hydrocephalus Osteoporosis Joint stiffness Skeletal muscle atrophy Hypertension Spinal rigidity Hearing impairment Retrognathia Polyhydramnios Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Long philtrum Blepharophimosis Ventricular septal defect Strabismus Muscle weakness Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Cerebral calcification Progeroid facial appearance Elbow flexion contracture Lipodystrophy Limb-girdle muscular dystrophy Myotonia Ankle contracture Macrotia Limb-girdle muscle atrophy Deeply set eye Peripheral demyelination Prominent nasal bridge Rocker bottom foot Knee flexion contracture Delayed myelination Insulin resistance Kyphoscoliosis Severe intrauterine growth retardation Anteverted nares Submucous cleft hard palate Abnormality of the pinna Pulmonary hypoplasia Bifid uvula Abnormality of the skin Renal agenesis Depressed nasal ridge Absent septum pellucidum Abnormality of the cerebellar vermis Talipes equinovarus Aplasia/Hypoplasia involving the skeletal musculature Narrow mouth Abnormality of the kidney Short palpebral fissure Multicystic kidney dysplasia Abnormality of skin pigmentation Osteolysis Proptosis Abnormality of vision Posteriorly rotated ears Acute lymphoblastic leukemia Micropenis High forehead Small for gestational age Wide nose Hyperpigmentation of the skin Myelodysplasia Nephroblastoma Ichthyosis Dental malocclusion Rhabdomyosarcoma Premature chromatid separation Feeding difficulties Motor delay Downslanted palpebral fissures Abnormality of the eye Apnea High, narrow palate Hypertriglyceridemia Patent ductus arteriosus Congenital cataract Malar flattening Pectus excavatum Holoprosencephaly Lissencephaly Midface retrusion Aplasia/Hypoplasia of the cerebellum Hypoplasia of the brainstem Hypertonia Pachygyria Microretrognathia Ptosis Cognitive impairment Gait disturbance Optic atrophy Hypoglycosylation of alpha-dystroglycan Glaucoma Aplasia/Hypoplasia of the corpus callosum Proximal muscle weakness Polymicrogyria EEG abnormality Generalized amyotrophy High pitched voice Everted lower lip vermilion Atrial septal defect Congenital contracture Intellectual disability, mild Abnormal heart morphology Radioulnar synostosis Pyloric stenosis Delayed skeletal maturation Hypothyroidism Clinodactyly of the 5th finger Metatarsus adductus Abnormality of the urinary system Renal hypoplasia/aplasia Pes planus Situs inversus totalis Wide anterior fontanel Abnormality of the face Mask-like facies Decreased muscle mass Dextrocardia Abnormality of the upper urinary tract Congenital ptosis Zollinger-Ellison syndrome Limb joint contracture Inferior vermis hypoplasia Epispadias Primitive reflex Fixed facial expression Abnormal form of the vertebral bodies Hydroureter Colpocephaly Distal arthrogryposis Abnormal anatomic location of the heart Restlessness Abnormality of the sternum Frontal bossing Abnormality of the penis Renal dysplasia Paresthesia Hip dysplasia Abnormality of the mouth Calcaneovalgus deformity Hydranencephaly Abnormality of nervous system morphology Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Abnormal eyelid morphology Broad foot Absent eyelashes Abnormal eyelash morphology Abnormal nasolacrimal system morphology Multiple joint contractures Osteomalacia Transposition of the great arteries External genital hypoplasia Prominent occiput Opisthotonus Abnormality of neuronal migration Bilateral cryptorchidism Radial deviation of finger Large hands Ectropion Abnormality of the philtrum Poor head control Renal hypoplasia Hyperactivity Interphalangeal joint contracture of finger Specific learning disability Low-set, posteriorly rotated ears Talipes Pectus carinatum Attention deficit hyperactivity disorder Camptodactyly of finger Respiratory tract infection Mitral valve prolapse Aggressive behavior Hydronephrosis Severe short stature Macrogyria Inguinal hernia Areflexia Yellow subcutaneous tissue covered by thin, scaly skin Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Small placenta Delayed gross motor development Choroid plexus cyst Bifid uterus Arachnodactyly Bulbous nose Craniosynostosis Hyperostosis Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Reduced subcutaneous adipose tissue Hypermelanotic macule Delayed cranial suture closure Glucose intolerance Focal segmental glomerulosclerosis Hyperglycemia Down-sloping shoulders Absent eyebrow Glomerulosclerosis Hyperinsulinemia Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Wormian bones Increased body weight Dental crowding Narrow nose Osteolytic defects of the phalanges of the hand Thin skin Bird-like facies Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Mottled pigmentation Vertebral compression fractures Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Large fontanelles Sparse scalp hair Corneal opacity Congestive heart failure Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Colon cancer Sleep apnea Aortic regurgitation Finger clinodactyly Subvalvular aortic stenosis Cafe-au-lait spot Rhizomelia Coarctation of aorta Growth hormone deficiency Triangular face Ascites Patent foramen ovale Long face Mandibular prognathia Dolichocephaly Intestinal polyposis Stomach cancer Epidermal acanthosis Scarring Nephrotic syndrome Abnormality of the cardiovascular system Convex nasal ridge Round face Full cheeks Sepsis Short distal phalanx of finger Delayed puberty Hypotrichosis Nail dystrophy Sparse hair Abnormal aortic morphology Paralysis Rigidity Hyperkeratosis Diabetes mellitus Alopecia Abnormality of the dentition Pain Vaginal neoplasm Epidermoid cyst Increased nuchal translucency Rickets Muscle cramps Pterygium Prominent nose Coxa valga Congenital glaucoma Retinal atrophy Cutaneous photosensitivity Megalocornea Meningocele Retinal dysplasia Neuronal loss in central nervous system Wide intermamillary distance Hypoplasia of the pons Hemiplegia/hemiparesis Gliosis Neurodegeneration Hirsutism Thin vermilion border Undetectable electroretinogram Buphthalmos Decreased light- and dark-adapted electroretinogram amplitude Cerebellar dysplasia Muscular hypotonia of the trunk Type II lissencephaly Cortical dysplasia Abnormality of the ear Uncontrolled eye movements EMG abnormality Retinal degeneration Generalized tonic-clonic seizures Leukemia Feeding difficulties in infancy Generalized muscle weakness High myopia Brachycephaly Upslanted palpebral fissure Encephalocele Immunodeficiency Osteopetrosis Opacification of the corneal stroma Severe muscular hypotonia Wide nasal bridge Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Cerebellar cyst Hypoplasia of the retina Generalized myoclonic seizures EMG: myopathic abnormalities Arrhythmia Sprengel anomaly Rimmed vacuoles Restrictive ventilatory defect Toe walking Hyperlordosis Dilated cardiomyopathy Back pain Atrioventricular block Reduced tendon reflexes Limb-girdle muscle weakness Scapular winging Limb muscle weakness Diplopia Abnormal lung morphology Palpitations Atrial fibrillation Lower limb muscle weakness Lumbar hyperlordosis Waddling gait Sudden cardiac death Shoulder girdle muscle weakness Achilles tendon contracture Hyperreflexia Ventricular escape rhythm Short nasal bridge Sensorineural hearing impairment Enlarged flash visual evoked potentials Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Permanent atrial fibrillation Decreased HDL cholesterol concentration Obesity Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Shoulder girdle muscle atrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Hyporeflexia of lower limbs Increased connective tissue Renal cyst Abnormality of movement Spina bifida Type I transferrin isoform profile Syndactyly Intermittent episodes of respiratory insufficiency due to muscle weakness Absent muscle fiber merosin Spasticity Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Pontocerebellar atrophy Abnormal myelination Hypogonadism Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Flat occiput Trigonocephaly Poor suck Hemangioma Weakness of facial musculature Limited neck flexion Truncal ataxia Thick vermilion border Abnormality of the hair Thick lower lip vermilion Decreased fetal movement Limb undergrowth Right ventricular hypertrophy Restrictive deficit on pulmonary function testing Ectodermal dysplasia Axial muscle weakness Vertigo Muscle fiber atrophy Increased muscle lipid content Cleft upper lip Micromelia Toe syndactyly Finger syndactyly Abnormal cardiac septum morphology Wide mouth Right ventricular failure Cleft lip Nocturnal hypoventilation Osteopenia Venous thrombosis Cerebral visual impairment Amenorrhea Acute leukemia Hepatomegaly Myoclonus Ataxia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Multiple renal cysts Tremor Neonatal hypotonia Pallor Combined immunodeficiency Bifid scrotum Coloboma Neurological speech impairment Sarcoma Abnormality of the cerebral white matter Primary amenorrhea Oligohydramnios Dilatation Respiratory distress Decreased liver function Short palm Telangiectasia Postnatal microcephaly Progressive neurologic deterioration Intention tremor Febrile seizures Nail dysplasia Visual impairment Small hand Myopia Dysmetria Cerebellar atrophy Smooth philtrum Abnormal pyramidal sign Retinopathy Elevated hepatic transaminase Gait ataxia Prominent forehead Absent speech Recurrent infections Cerebral atrophy Splenomegaly Stiff elbow


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