Dysarthria, and Holoprosencephaly
Diseases related with Dysarthria and Holoprosencephaly
In the following list you will find some of the most common rare diseases related to Dysarthria and Holoprosencephaly that can help you solving undiagnosed cases.
Top matches:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Muscular hypotonia
- Cataract
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9
Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
Other less relevant matches:
Low 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 DISEASELow match CORNELIA DE LANGE SYNDROME 2; CDLS2
Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.
CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about CORNELIA DE LANGE SYNDROME 2; CDLS2
Low match VELOCARDIOFACIAL SYNDROME
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about VELOCARDIOFACIAL SYNDROME
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROMEHydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
SOURCES: OMIM ORPHANET MENDELIAN
More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUSLow match JACOBSEN SYNDROME
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MENDELIAN
More info about JACOBSEN SYNDROMELow match THANATOPHORIC DYSPLASIA TYPE 2
Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).
THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor
Related symptoms:
- Seizures
- Short stature
- Hearing impairment
- Muscular hypotonia
- Cognitive impairment
SOURCES: OMIM ORPHANET MENDELIAN
More info about THANATOPHORIC DYSPLASIA TYPE 2Top 5 symptoms//phenotypes associated to Dysarthria and Holoprosencephaly
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Hydrocephalus | Common - Between 50% and 80% cases |
| Ventriculomegaly | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Dysarthria and Holoprosencephaly. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Generalized hypotoniaUncommon Symptoms - Between 30% and 50% cases
Short statureCommon Symptoms - More than 50% cases
MicrocephalyUncommon Symptoms - Between 30% and 50% cases
Cognitive impairment Intellectual disability, severe Macrocephaly Cataract Muscular hypotonia Spasticity Dilatation Absent speech Patent ductus arteriosus Scoliosis Atrial septal defect Frontal bossing Hearing impairment Short neck Micrognathia Abnormal facial shape Strabismus Hypoplasia of the corpus callosum Microphthalmia Coloboma Flexion contracture EEG abnormality Open mouth Spina bifida Anal atresia Agenesis of corpus callosum Retrognathia Hypothyroidism Abnormality of cardiovascular system morphology Abnormal heart morphology Ventricular septal defect Clinodactyly Anteverted nares Downslanted palpebral fissures Brachydactyly High palate Ptosis Cleft palate Depressed nasal bridge Multicystic kidney dysplasia Optic atrophy Cerebral calcification MyopathyRare Symptoms - Less than 30% cases
Immunodeficiency Delayed speech and language development Prominent forehead Coarctation of aorta Behavioral abnormality Severe short stature Recurrent infections Wide intermamillary distance Thrombocytopenia Hernia Hypospadias Webbed neck Clinodactyly of the 5th finger Narrow forehead Epicanthus Inguinal hernia Thin upper lip vermilion Gastroesophageal reflux Brachycephaly Recurrent respiratory infections Polyhydramnios Abnormality of the metaphysis High forehead Skeletal dysplasia Intrauterine growth retardation Hydronephrosis Feeding difficulties Camptodactyly Hypoplastic left heart Craniosynostosis Smooth philtrum Pectus excavatum Posteriorly rotated ears Anal stenosis Wide nasal bridge Low-set ears Natal tooth Failure to thrive Neoplasm Hypertelorism Flat occiput Arteria lusoria Giant platelets Flat face Echolalia Pierre-Robin sequence Bipolar affective disorder Talipes equinovarus Partial agenesis of the corpus callosum Submucous cleft hard palate Nasal speech Schizophrenia Dolichocephaly Pyloric stenosis Abnormality of the dentition Intestinal malrotation Specific learning disability Bifid uvula Intellectual disability, mild Narrow chest Conductive hearing impairment Long philtrum Syndactyly Ectopic anus Aortic valve stenosis Growth delay Buphthalmos Hypoplasia of the brainstem Neurological speech impairment Muscular dystrophy Abnormality of the cerebral white matter Polymicrogyria High myopia Intellectual disability, profound Leukodystrophy Lissencephaly Congenital muscular dystrophy Cerebellar cyst Glaucoma Hypertonia Myoclonus Hyperactivity Infantile muscular hypotonia Coarse facial features Anxiety Pachygyria Encephalocele Everted lower lip vermilion Congenital cataract Hemiplegia/hemiparesis Severe global developmental delay Meningocele Myopia Prominent nose Long eyelashes Nystagmus Cleft lip Retinal dysplasia Elevated serum creatine phosphokinase Delayed closure of the anterior fontanelle White forelock Spastic paraparesis Paraparesis Sclerosis of skull base Fibular aplasia Metaphyseal irregularity Spastic paraplegia Facial paralysis Otosclerosis Large forehead Abnormal pyramidal sign Increased intracranial pressure Thoracolumbar kyphosis Paraplegia High iliac wings Asymmetry of the thorax Straight clavicles Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Facial hyperostosis Disproportionate short-limb short stature Osteopathia striata Metaphyseal striations Alobar holoprosencephaly Flexion contracture of toe Paranasal sinus hypoplasia Acanthosis nigricans Broad clavicles Carcinoma Rough bone trabeculation Short ribs Joint stiffness Redundant skin Laryngotracheomalacia Short thorax Broad ribs Cutaneous syndactyly Hyperostosis Nephroblastoma Overfolded helix Metaphyseal widening Short sacroiliac notch Increased susceptibility to fractures Lethal short-limbed short stature Mutism Small foramen magnum Aphasia Spina bifida occulta Osteolysis Microretrognathia Narrow palate Spontaneous abortion Small abnormally formed scapulae Increased bone mineral density Joint contracture of the hand Delayed cranial suture closure Dysphasia Thoracic dysplasia Occipital encephalocele Abnormality of neuronal migration Misalignment of teeth Osteopetrosis Ankylosis Tracheomalacia Fibular hypoplasia Flared metaphysis Absent septum pellucidum Aplasia/Hypoplasia of the lungs Severe short-limb dwarfism Thickened calvaria Short femur Hypoplastic ilia Small face Cloverleaf skull Mixed hearing impairment Increased nuchal translucency Visual field defect Adducted thumb Noncommunicating hydrocephalus Renal cell carcinoma Amblyopia Trigonocephaly Hand polydactyly Tachypnea Abnormal palate morphology Azoospermia Horseshoe kidney Bone marrow hypocellularity Short toe Sinusitis Short thumb Abnormal form of the vertebral bodies Chorioretinal coloboma Pancytopenia Eczema Dehydration Microdontia Otitis media Growth hormone deficiency Central hypothyroidism Abnormal vertebral morphology Clitoral hypoplasia Premature birth Ectropion Heart murmur Postural instability Long hallux Duodenal atresia Mitral stenosis Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Urethral stenosis Hammertoe Chronic constipation Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Transposition of the great arteries U-Shaped upper lip vermilion Slender finger Atrioventricular canal defect Aplasia/Hypoplasia of the eyebrow Macular hypoplasia Toe clinodactyly Aqueductal stenosis Micromelia Feeding difficulties in infancy Joint hyperflexibility Low-set, posteriorly rotated ears Intellectual disability, moderate Telecanthus Hypoglycemia Pes planus Osteopenia Hypogonadism Osteoporosis Constipation Abnormal cardiac septum morphology Cerebral atrophy Short nose Congestive heart failure Cryptorchidism Limitation of joint mobility Sensorineural hearing impairment Decreased fetal movement Eyelid coloboma Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Postnatal growth retardation Attention deficit hyperactivity disorder Abnormality of the anus Bruising susceptibility Annular pancreas Internal hemorrhage Microcornea Bilateral camptodactyly Single transverse palmar crease Congenital thrombocytopenia Megakaryocyte dysplasia Iris coloboma Abnormality of the curvature of the vertebral column Respiratory insufficiency Kyphosis Platyspondyly Tachycardia Talipes Facial asymmetry Proptosis Toe syndactyly Hip dislocation Small for gestational age Abnormality of the kidney Leukemia Finger syndactyly Skin rash Decreased antibody level in blood Paranoia Dental crowding Poor speech Febrile seizures Esotropia Full cheeks Short foot Highly arched eyebrow Small hand Downturned corners of mouth Hirsutism Thick eyebrow Synophrys Ventricular hypertrophy Prominent nasal bridge Sparse hair Respiratory tract infection Hypertrophic cardiomyopathy Deeply set eye Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Mitral valve prolapse Mitral regurgitation Type II lissencephaly Skull asymmetry Aggressive behavior Arthritis Umbilical hernia Dementia Depressivity Obesity Cerebellar atrophy Fever Anemia Curly eyelashes Decreased body weight Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Cutis marmorata Proximal placement of thumb Widely spaced teeth Aortic regurgitation Low anterior hairline Hypoglycosylation of alpha-dystroglycan Cerebellar dysplasia Abnormality of the pinna Encephalopathy Thick upper lip vermilion Spastic tetraplegia Hypotelorism Epileptic encephalopathy Dandy-Walker malformation Tetraplegia Short philtrum Muscular hypotonia of the trunk Macrotia Hyperreflexia Muscle weakness Agyria Poor head control Cerebellar vermis hypoplasia Retinal dystrophy Corneal opacity Respiratory failure Lobar holoprosencephaly Cortical gyral simplification Sloping forehead Ataxia Fusion of the left and right thalami Visual impairment Decreased light- and dark-adapted electroretinogram amplitude Aplasia/Hypoplasia of the corpus callosum Undetectable electroretinogram Hypoplasia of the pons Megalocornea Retinal atrophy Congenital glaucoma Cortical dysplasia Aplasia/Hypoplasia of the cerebellum Abnormality of the voice Optic nerve hypoplasia Severe muscular hypotonia Gait disturbance Opacification of the corneal stroma EMG abnormality Generalized muscle weakness Retinal degeneration Abnormality of movement Pallor Neonatal hypotonia Cerebellar hypoplasia Midface retrusion Malar flattening Mental deterioration Blepharophimosis Large fontanelles Psychotic episodes Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Aplasia of the thymus Conotruncal defect Abnormality of the skeletal system Velopharyngeal insufficiency Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Pain Headache Aplasia of the uterus High, narrow palate Aganglionic megacolon Omphalocele Thick lower lip vermilion Lumbar hyperlordosis Oligohydramnios Abnormality of the skin Dental malocclusion Broad nasal tip Delayed eruption of teeth Thick vermilion border Facial palsy Thin vermilion border Long face Cleft upper lip Arachnodactyly Ophthalmoplegia Broad forehead Microtia Paralysis Hyperlordosis Apnea Graves disease Seborrheic dermatitis Autoimmunity Psychosis Arnold-Chiari malformation Bicuspid aortic valve Purpura Narrow palpebral fissure Hypocalcemia Hallucinations Renal dysplasia Primary amenorrhea Low posterior hairline Tetralogy of Fallot Cholelithiasis Peripheral demyelination Amenorrhea Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Hemolytic anemia Bulbous nose Dysmetria Pulmonic stenosis Abnormality of the hand Dysdiadochokinesis Juvenile rheumatoid arthritis Autoimmune thrombocytopenia Pulmonary artery atresia Abnormality of the endocrine system Myelomeningocele Truncus arteriosus Delusions Hearing abnormality Hypoparathyroidism Vitiligo Posterior embryotoxon Axonal loss Rheumatoid arthritis Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Wide-cupped costochondral junctionsIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Depressed nasal ridge, related diseases and genetic alterations Low-set ears and Single transverse palmar crease, related diseases and genetic alterations High palate and Insulin resistance, related diseases and genetic alterations Abnormal facial shape and Flat face, related diseases and genetic alterations Global developmental delay and Epidermal acanthosis, related diseases and genetic alterations Seizures and Intestinal malrotation, related diseases and genetic alterations