Generalized hypotonia, and Microtia

Diseases related with Generalized hypotonia and Microtia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Microtia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Medium match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Other less relevant matches:

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

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 alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: ORPHANET MENDELIAN

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Microtia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Posteriorly rotated ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Microtia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Short stature Downslanted palpebral fissures Short neck High palate Narrow mouth Long face Deeply set eye Microcephaly Hyperactivity Growth delay Hypertelorism Feeding difficulties Abnormality of the skeletal system Failure to thrive Cryptorchidism Delayed speech and language development Epicanthus Macrocephaly

Rare Symptoms - Less than 30% cases

Upslanted palpebral fissure Scoliosis Wide intermamillary distance Pectus excavatum Wide nasal bridge Long philtrum Polydactyly Osteopenia Pes planus Thin upper lip vermilion Low-set, posteriorly rotated ears Postnatal growth retardation Microphthalmia Hypoplasia of the corpus callosum Large fontanelles Small for gestational age Tapered finger Downturned corners of mouth Hypospadias Hypertension Respiratory insufficiency Muscular hypotonia Poor speech Absent speech Ventriculomegaly Strabismus Motor delay Abnormal facial shape Neurological speech impairment Micrognathia Short palm Type II lissencephaly Adducted thumb Congenital muscular dystrophy Hypoplasia of the brainstem Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Peters anomaly Agyria Lissencephaly Remnants of the hyaloid vascular system Immunodeficiency Neoplasm Syndactyly Overfolded helix Joint hypermobility Nevus Overgrowth Nephroblastoma Multiple lipomas Optic nerve hypoplasia Heterotopia Scrotal hypoplasia Elevated serum creatine phosphokinase Squared iliac bones Severe platyspondyly Dysplastic sacrum Iliac crest serration Cataract Autism Hydrocephalus Broad neck Areflexia Cerebellar hypoplasia Pachygyria Glaucoma Retrognathia Facial palsy Muscular dystrophy Polymicrogyria Retinal detachment Dandy-Walker malformation Decreased fetal movement Intellectual disability, profound Encephalocele Lipoatrophy Telangiectasia of the skin Microcornea Long palpebral fissure Postaxial polydactyly Underdeveloped nasal alae Microdontia Hip dysplasia Open mouth Sacral dimple Bicuspid aortic valve Oligodontia Overlapping toe Inverted nipples Attention deficit hyperactivity disorder Thickened nuchal skin fold Sparse lateral eyebrow Wide nasal ridge Hearing impairment Cleft palate Midface retrusion Abnormality of the pinna Blepharophimosis Carious teeth Flat face Dolichocephaly Abnormal cardiac septum morphology Foot polydactyly Macrodactyly Enlarged kidney Megalencephaly Hydrocele testis Hypoplastic ischia Seborrheic dermatitis Advanced eruption of teeth Abnormality of the lymphatic system Capillary malformation Hemimegalencephaly Epidermal nevus 2-4 toe syndactyly Craniosynostosis Hyperparakeratosis Ovarian serous cystadenoma Abnormal venous morphology Hemimacroglossia Pain Ptosis Ventricular septal defect Short palpebral fissure Hyporeflexia Constipation Abnormality of the cerebral vasculature Delayed epiphyseal ossification Metaphyseal cupping Incoordination Feeding difficulties in infancy Developmental regression Skin rash Tremor Lethargy Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Rheumatoid arthritis Acidosis Macrocytic anemia Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Arthritis Abnormal heart morphology Decreased adenosylcobalamin Smooth philtrum Postnatal macrocephaly Delayed gross motor development Talipes equinovarus Focal-onset seizure Delayed myelination Generalized myoclonic seizures Kyphoscoliosis Intellectual disability, moderate Broad forehead Hyperlordosis Rhizomelia Thrombocytopenia Progressive microcephaly Coxa valga Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Ataxia Gastroesophageal reflux Anemia Megaloblastic bone marrow Decreased methionine synthase activity Spondylometaphyseal dysplasia Round face Congestive heart failure Short nose Dilatation Delayed skeletal maturation Prominent forehead Muscular hypotonia of the trunk Platyspondyly Narrow chest Micromelia Wide nose Limb undergrowth Anteverted nares Cardiomegaly Pulmonary arterial hypertension Proptosis Wide anterior fontanel Short ribs Wormian bones Tachypnea Short long bone Deep philtrum Hypokinesia Bell-shaped thorax Autistic behavior Depressed nasal bridge Cystathioninuria Thick vermilion border Cystathioninemia Intrauterine growth retardation Cognitive impairment Encephalopathy Clinodactyly Tall stature High forehead Febrile seizures Hypermetropia Facial asymmetry Small hand Tented philtrum Everted lower lip vermilion Short foot Abnormality of the foot Epileptic encephalopathy Long eyelashes Sandal gap Plagiocephaly Tented upper lip vermilion Delayed ability to walk High anterior hairline Short attention span Ureterocele


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