Intellectual disability, severe, and Holoprosencephaly

Diseases related with Intellectual disability, severe and Holoprosencephaly

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

Top matches:

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

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

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

Other less relevant matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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

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 MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

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

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Holoprosencephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hydrocephalus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Holoprosencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Agenesis of corpus callosum Strabismus Microcephaly Microphthalmia Cataract Delayed speech and language development Spasticity Absent septum pellucidum Ventriculomegaly Cognitive impairment Dilatation Hypoplasia of the corpus callosum Short neck Short stature Hypertonia Coarse facial features Hypotelorism Hearing impairment Nystagmus Hypoplasia of the brainstem Midface retrusion High palate Short nose Hemiplegia/hemiparesis Hypertelorism Abnormal facial shape Congenital cataract Coloboma Flexion contracture Congenital muscular dystrophy Abnormality of the cerebral white matter Muscular dystrophy Intellectual disability, profound Pulmonic stenosis Glaucoma Lissencephaly Elevated serum creatine phosphokinase Polymicrogyria Cerebellar cyst Buphthalmos Myopathy Myopia

Rare Symptoms - Less than 30% cases

Micropenis Severe global developmental delay Neonatal hypotonia Trigonocephaly Abnormality of digit EEG abnormality Malar flattening Gait disturbance Visual impairment Optic atrophy Patent ductus arteriosus Muscle weakness Amenorrhea Everted lower lip vermilion Retrognathia Cryptorchidism Micrognathia Pachygyria Generalized muscle weakness Type II lissencephaly Hip dislocation Abnormal heart morphology Hernia Abnormality of cardiovascular system morphology Ventricular septal defect Frontal bossing Deep philtrum Growth delay Bulbous nose Hypoglycosylation of alpha-dystroglycan Cerebellar dysplasia Encephalocele Retinal dysplasia Meningocele Cortical dysplasia Open mouth Optic nerve hypoplasia Scoliosis Atrial septal defect Abnormality of the pinna Aplasia/Hypoplasia of the corpus callosum EMG abnormality Dolichocephaly Intrauterine growth retardation Cerebellar hypoplasia Hypermetropia Joint stiffness Cleft palate Flexion contracture of thumb Aqueductal stenosis Adducted thumb Increased intracranial pressure Spastic paraplegia Ankle contracture Depressed nasal bridge Knee flexion contracture Obesity Hyperreflexia Agyria Cerebellar vermis hypoplasia High myopia Absent speech Ptosis Hypothyroidism Broad forehead Anteverted nares Osteoporosis of vertebrae Cerebellar atrophy Fever Anemia Ectopic anterior pituitary gland Hypoparathyroidism Anterior pituitary agenesis Myelomeningocele Abnormality of secondary sexual hair Immunodeficiency Decreased cervical spine mobility Congenital conductive hearing impairment Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Behavioral abnormality Thrombocytopenia Recurrent infections Hyperactivity Arthritis Conductive hearing impairment Posterior embryotoxon Bipolar affective disorder Umbilical hernia Vascular ring Posteriorly rotated ears Right aortic arch with mirror image branching Dementia Inguinal hernia Perineal fistula Depressivity Hypospadias Vitiligo Septo-optic dysplasia Ectopic posterior pituitary Aggressive behavior Delayed puberty Decreased testicular size Hypotension Growth hormone deficiency Macroglossia Ascites Infertility Abnormality of the eye Depressed nasal ridge Deeply set eye Hypoglycemia Hearing abnormality Jaundice Osteopenia Polyhydramnios Unilateral lung agenesis Aspiration Decreased circulating ACTH level Short attention span Median cleft lip and palate Sacral meningocele Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Aspiration pneumonia Hoarse voice Severe postnatal growth retardation Hypopituitarism Prolonged neonatal jaundice Hypoplastic left heart Delayed cranial suture closure Adrenal insufficiency Hypogonadotrophic hypogonadism Anxiety Blepharophimosis Mental deterioration Graves disease Nasal speech Submucous cleft hard palate Seborrheic dermatitis Abnormality of the hand Schizophrenia Aplasia of the uterus Autoimmune thrombocytopenia Axonal loss Interrupted aortic arch Truncus arteriosus Arnold-Chiari malformation Bicuspid aortic valve Perimembranous ventricular septal defect Purpura Cholelithiasis Juvenile rheumatoid arthritis Narrow palpebral fissure Rheumatoid arthritis Acne Myopathic facies Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Abnormality of the ear Dysdiadochokinesis Echolalia Abnormality of the endocrine system Basal ganglia calcification Pulmonary artery atresia Autoimmune hemolytic anemia Polydactyly Platybasia Multicystic kidney dysplasia Inflammation of the large intestine Delusions Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Chorea Conotruncal defect Psychotic episodes Bifid uvula Pierre-Robin sequence Arteria lusoria Hemolytic anemia Central nervous system degeneration Dysmetria Anal atresia Autoimmunity Velopharyngeal insufficiency Giant platelets Mood swings Renal dysplasia Right aortic arch Hypocalcemia Spina bifida Hallucinations Impaired T cell function Anal stenosis Primary amenorrhea Specific learning disability Low posterior hairline Duodenal stenosis Paranoia Retinal vascular tortuosity Psychosis Tetralogy of Fallot Peripheral demyelination Aplasia of the thymus Abnormal dermatoglyphics Hypogonadism Small posterior fossa Visceromegaly Bilateral cryptorchidism Small hand Babinski sign Hyporeflexia Exencephaly Proboscis Esodeviation Cyclopia Single median maxillary incisor Scaphocephaly Facial cleft Absent thumb Exotropia Oxycephaly Myoclonus Microcornea Congenital glaucoma Uncontrolled eye movements Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Hypoplasia of the pons Megalocornea Retinal atrophy Aplasia/Hypoplasia of the cerebellum Pallor Abnormality of the voice Infantile muscular hypotonia Severe muscular hypotonia Opacification of the corneal stroma Retinal degeneration Abnormality of movement Neurological speech impairment Narrow forehead Oral cleft Short nasal bridge Intellectual disability, mild Delayed gross motor development Abnormality of the fingernails Pointed chin Tapered finger Long face Intellectual disability, moderate Downslanted palpebral fissures Long fingers Poor head control Leukodystrophy Cerebral calcification Retinal dystrophy Corneal opacity Respiratory failure Limited elbow extension Macroorchidism Astigmatism Clear cell renal cell carcinoma Synophrys Macrotia Upslanted palpebral fissure Abnormality of the skeletal system Noncommunicating hydrocephalus Corticospinal tract hypoplasia Renal cell carcinoma Female infertility Spastic paraparesis Paraparesis Paraplegia Abnormal pyramidal sign Carcinoma Neoplasm Absent nares Hypoplasia of the retina Enlarged flash visual evoked potentials Prominent forehead Bradycardia Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Plagiocephaly Hemivertebrae Congenital hip dislocation Preauricular skin tag Multiple joint contractures Brain atrophy Abnormal cerebellum morphology Retinal detachment Arthrogryposis multiplex congenita Dilated cardiomyopathy Camptodactyly of finger Calf muscle hypertrophy Generalized amyotrophy Rigidity Hypoplasia of the pyramidal tract Pneumonia Constipation Delayed skeletal maturation Edema Fatigue Sensorineural hearing impairment Cephalocele Spinal rigidity Thoracic hemivertebrae Exaggerated startle response Myocardial fibrosis Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Apnea Brachycephaly Low-set ears Hydronephrosis Thin vermilion border Finger syndactyly Prominent nasal bridge Wide mouth Protruding ear Muscular hypotonia of the trunk Thin upper lip vermilion Iris coloboma High forehead Clinodactyly of the 5th finger Clinodactyly Long philtrum Wide nasal bridge Brachydactyly Epicanthus Thick eyebrow Single transverse palmar crease Areflexia Anteverted ears Pectus excavatum Respiratory distress Respiratory insufficiency Skeletal muscle atrophy Motor delay Leukocoria Retinoblastoma Webbed neck Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Supernumerary nipple Patent foramen ovale Finger clinodactyly Wide anterior fontanel Unilateral primary pulmonary dysgenesis


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