Muscle weakness, and Holoprosencephaly

Diseases related with Muscle weakness and Holoprosencephaly

In the following list you will find some of the most common rare diseases related to Muscle weakness and Holoprosencephaly that can help you solving undiagnosed cases.


Top matches:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

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 DISEASE

Low match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

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Other less relevant matches:

Low match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Low match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Low match SCHIZENCEPHALY


Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

Low match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus 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 SYLVIUS

Low match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS 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 SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness 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 Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Holoprosencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe Microcephaly Strabismus Spasticity Microphthalmia Cataract Macrocephaly Aplasia/Hypoplasia of the corpus callosum Muscular hypotonia Hypoplasia of the corpus callosum Intellectual disability, profound Flexion contracture Myopathy EEG abnormality Hypertelorism Downslanted palpebral fissures Cognitive impairment Hypertonia Wide nasal bridge Posteriorly rotated ears Micropenis Delayed speech and language development Neonatal hypotonia Congenital cataract Encephalocele Cryptorchidism Hypoplasia of the brainstem Hemiplegia/hemiparesis Absent septum pellucidum Low-set ears Coarse facial features Glaucoma Muscular dystrophy Lissencephaly Abnormality of the cerebral white matter Congenital muscular dystrophy Buphthalmos Polymicrogyria Cerebellar cyst Elevated serum creatine phosphokinase Myopia Nystagmus

Rare Symptoms - Less than 30% cases


Cleft upper lip Aqueductal stenosis Adducted thumb Scoliosis Gonadotropin deficiency Cutaneous syndactyly Hypotelorism Short neck Craniosynostosis Cleft lip Flexion contracture of thumb Hypogonadism Atrial septal defect Hypospadias Syndactyly Respiratory insufficiency Intrauterine growth retardation Retrognathia Motor delay Increased intracranial pressure Pectus excavatum Ventricular septal defect Long face Hyperreflexia Paralysis Abnormal vertebral morphology Spastic tetraplegia Epicanthus Facial palsy Neoplasm Abnormal heart morphology Patent ductus arteriosus Frontal bossing Brachycephaly Joint stiffness Abnormal facial shape Hearing impairment Short stature Ankle contracture Spastic paraplegia Knee flexion contracture Hemivertebrae Dolichocephaly Apnea Intellectual disability, mild Specific learning disability Delayed eruption of teeth Depressed nasal bridge Midface retrusion Optic nerve hypoplasia EMG abnormality Pachygyria Generalized muscle weakness High myopia Severe global developmental delay Coloboma Cerebellar hypoplasia Gait disturbance Megalocornea Optic atrophy Visual impairment Micrognathia Agyria Ptosis Poor head control Cerebellar vermis hypoplasia Cortical dysplasia Cerebral calcification Type II lissencephaly Cleft palate Hypoglycosylation of alpha-dystroglycan Retinal dysplasia Growth delay Cerebellar dysplasia Asymmetry of the thorax Hyperlordosis Camptodactyly Hydronephrosis Conductive hearing impairment High forehead Skeletal dysplasia Broad forehead Gastroesophageal reflux Polyhydramnios Hypothyroidism Prominent forehead Microtia Arachnodactyly Ophthalmoplegia Anal atresia Clinodactyly of the 5th finger Thin vermilion border High iliac wings Flat face Thick vermilion border High, narrow palate Broad nasal tip Bifid uvula Unilateral facial palsy Intestinal malrotation Dental malocclusion Webbed neck Severe short stature Long philtrum Clinodactyly Bilateral cryptorchidism Renal cell carcinoma Retinal dystrophy Clear cell renal cell carcinoma Corneal opacity Corticospinal tract hypoplasia Noncommunicating hydrocephalus Respiratory failure Hyporeflexia Straight clavicles Babinski sign Absent speech Small hand Metaphyseal striations Osteopathia striata Abnormality of cardiovascular system morphology Visceromegaly Facial hyperostosis Oxycephaly Esodeviation Failure to thrive Pain High palate Abnormality of the skeletal system Talipes equinovarus Anteverted nares Abnormality of the dentition Wide intermamillary distance Headache Abnormality of the skin Laryngeal web Sclerosis of skull base Ankylosis Aphasia Dysphasia Hypoplastic left heart Visual field defect Mixed hearing impairment Partial agenesis of the corpus callosum Thickened calvaria Natal tooth Submucous cleft hard palate Anal stenosis Rough bone trabeculation Fibular hypoplasia Tracheomalacia Pierre-Robin sequence Hyperostosis Flexion contracture of toe Osteopetrosis Misalignment of teeth Echolalia Ectopic anus Thoracic dysplasia Broad ribs Large forehead Facial paralysis White forelock Delayed closure of the anterior fontanelle Fibular aplasia Otosclerosis Thoracolumbar kyphosis Delayed cranial suture closure Flat occiput Narrow forehead Increased bone mineral density Oligohydramnios Craniofacial osteosclerosis Coarctation of aorta Lumbar hyperlordosis Thick lower lip vermilion Open mouth Abnormality of the metaphysis Omphalocele Aganglionic megacolon Large iliac wings Dental crowding Laryngotracheomalacia Aortic valve stenosis Joint contracture of the hand Spina bifida Nephroblastoma Multicystic kidney dysplasia Spontaneous abortion Narrow palate Microretrognathia Osteolysis Spina bifida occulta Mutism Nasal speech Alobar holoprosencephaly Broad clavicles Pyloric stenosis Increased susceptibility to fractures Metaphyseal widening Overfolded helix Large fontanelles Delayed gross motor development Spastic paraparesis Abnormal cerebellum morphology Areflexia Infantile muscular hypotonia Rigidity Severe muscular hypotonia Abnormality of the pinna Camptodactyly of finger Hip dislocation Dilated cardiomyopathy Opacification of the corneal stroma Arthrogryposis multiplex congenita Hypermetropia Pulmonic stenosis Retinal detachment Brain atrophy Respiratory distress Preauricular skin tag Bradycardia Congenital hip dislocation Plagiocephaly Mask-like facies Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Multiple joint contractures Generalized amyotrophy Spinal rigidity Transposition of the great arteries Weak cry Atrophy/Degeneration affecting the brainstem Abnormality of the voice Skeletal muscle atrophy Myocardial fibrosis Split hand Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Telecanthus Low-set, posteriorly rotated ears Protruding ear Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Oral cleft Wide nose Ectodermal dysplasia Hypoplasia of the pons Diabetes insipidus Aplasia/Hypoplasia of the cerebellum Non-midline cleft lip Abnormality of digit Meningocele Ectrodactyly Aplasia/Hypoplasia of the radius Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Retinal atrophy Congenital glaucoma Anencephaly Exaggerated startle response Paraparesis Porencephalic cyst Supernumerary ribs Vertebral hypoplasia Absent gallbladder Multiple impacted teeth Hypothalamic hamartoma Glandular hypospadias Cervical hemivertebrae Proximal esophageal atresia Blindness Cerebral cortical atrophy Inability to walk Tetraplegia Hemiparesis Schizencephaly Butterfly vertebrae Obesity Intellectual disability, moderate Tapered finger Pointed chin Abnormality of the fingernails Limited elbow extension Long fingers Macroorchidism Female infertility Absent nares Carcinoma Leukodystrophy Abnormal pyramidal sign Paraplegia Anterior pituitary hypoplasia Periventricular leukomalacia Thoracic hemivertebrae Hypoplasia of penis Cephalocele Hypoplasia of the pyramidal tract Everted lower lip vermilion Retinal degeneration Sensorineural hearing impairment Abnormality of movement Neurological speech impairment Visual loss Pallor Myoclonus Postnatal growth retardation Iris coloboma Single transverse palmar crease Growth hormone deficiency Malar flattening Rib fusion Abnormality of the genital system Heterotopia Hypogonadotrophic hypogonadism Patent foramen ovale Chorioretinal coloboma Anophthalmia Tracheoesophageal fistula Spastic diplegia Vertebral fusion Increased number of teeth Esophageal atresia Sclerocornea Missing ribs 11 pairs of ribs Paranasal sinus hypoplasia



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