Intellectual disability, severe, and High forehead

Diseases related with Intellectual disability, severe and High forehead

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

Top matches:

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Other less relevant matches:

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

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

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Seizures Micrognathia Depressed nasal bridge Short stature Abnormal facial shape Low-set ears Ptosis Microcephaly Growth delay Hypoplasia of the corpus callosum Scoliosis Hydrocephalus Ventriculomegaly Strabismus Delayed speech and language development High palate Downslanted palpebral fissures Brachydactyly Macrocephaly Deeply set eye Tented upper lip vermilion Abnormality of cardiovascular system morphology Absent speech Coloboma Open mouth Cryptorchidism Motor delay Protruding ear Hearing impairment Prominent forehead Cataract Failure to thrive Ventricular septal defect Frontal bossing Upslanted palpebral fissure Generalized tonic-clonic seizures

Rare Symptoms - Less than 30% cases

Nystagmus Intrauterine growth retardation Thin vermilion border Abnormal heart morphology Everted lower lip vermilion Flexion contracture Iris coloboma Cleft palate Thick eyebrow Abnormality of the periventricular white matter Feeding difficulties Muscular hypotonia of the trunk Intellectual disability, progressive Dolichocephaly Epileptic encephalopathy Smooth philtrum Polydactyly Microphthalmia Infantile spasms Generalized myoclonic seizures Abnormal cardiac septum morphology Short philtrum Prominent nasal bridge Postaxial polydactyly Narrow face Dandy-Walker malformation Stereotypy Telecanthus Thick vermilion border Wide mouth Attention deficit hyperactivity disorder Autism Single transverse palmar crease Apnea Short nose Hydronephrosis Autistic behavior Anteverted nares Large fontanelles Wide nasal bridge Behavioral abnormality Mandibular prognathia Encephalopathy Posteriorly rotated ears Myoclonus Hyperactivity Spasticity Broad forehead EEG abnormality Aggressive behavior Absent septum pellucidum Thick corpus callosum Cognitive impairment Vascular ring Trigonocephaly Supernumerary nipple Hip dislocation Aplasia/Hypoplasia of the thumb Capillary malformation Abnormality of the gastrointestinal tract Abnormal nasal morphology Cavum septum pellucidum Patent foramen ovale Thickened helices Retinoblastoma Cortical dysplasia Holoprosencephaly Short neck Megalencephaly Finger syndactyly Bulbous nose Long palpebral fissure Webbed neck Micropenis Hypotelorism Thoracic scoliosis Clinodactyly of the 5th finger Wide anterior fontanel Deep philtrum Abnormally large globe Dilation of lateral ventricles Finger clinodactyly Abnormal localization of kidney Clinodactyly Abnormal dermatoglyphics Hernia Long philtrum Thin upper lip vermilion Hypoplastic left heart Anteverted ears Heterotopia Displacement of the external urethral meatus Aplasia/Hypoplasia of the thymus Subependymal cysts Bilateral trilobed lungs Dilatation Macrotia Toe syndactyly Inability to walk Downturned corners of mouth Short foot Febrile seizures Convex nasal ridge Broad-based gait Short chin Common atrium Absence seizures Plagiocephaly Optic nerve hypoplasia Cupped ear Poor eye contact Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Hemiclonic seizures Frontal cortical atrophy Persistent left superior vena cava Anterior creases of earlobe Leukocoria Laryngomalacia Midface retrusion Anxiety Abnormality of the pinna Neurological speech impairment Poor speech Wide nose Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Depressed nasal ridge Situs inversus totalis Sleep apnea Abnormality of the genitourinary system Nasal speech Velopharyngeal insufficiency Stridor Obsessive-compulsive behavior Knee flexion contracture Transposition of the great arteries Abnormality of immune system physiology Double outlet right ventricle Dyslexia Abdominal situs inversus Anomalous pulmonary venous return Heterotaxy Interrupted aortic arch Abnormality of the pharynx Total anomalous pulmonary venous return Urethral stenosis Large for gestational age Areflexia Pachygyria CNS infection Falls Focal-onset seizure Gingival overgrowth Relative macrocephaly Atonic seizures Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy EEG with focal sharp slow waves Gastroesophageal reflux Ataxia Hypertension Malar flattening Pneumonia Abnormality of the eye Irritability Abnormality of eye movement Highly arched eyebrow Renal cyst Cerebellar vermis hypoplasia Encephalocele Molar tooth sign on MRI Mental deterioration Recurrent respiratory infections Meningocele Severe short stature Agenesis of corpus callosum Synophrys Vesicoureteral reflux Intestinal malrotation Preauricular skin tag Horseshoe kidney Biparietal narrowing Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Recurrent infections Osteopenia Cerebral atrophy Congenital cataract Rhizomelia Abnormality of pelvic girdle bone morphology Congenital contracture Short humerus Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Dysphagia Abnormality of the dentition Occipital encephalocele Multiple renal cysts Mitral regurgitation Optic nerve dysplasia Opacification of the corneal stroma Poor suck Polycystic kidney dysplasia Cubitus valgus Clitoral hypertrophy Metatarsus adductus Palpebral edema Turricephaly Abnormality of the helix Hypoplasia of the thymus Abnormality of the mitochondrion Brushfield spots Joint contracture of the hand Elevated long chain fatty acids Intrahepatic biliary dysgenesis Stippled chondral calcification Visual impairment Skeletal muscle atrophy Atrial septal defect Blindness Kyphosis Narrow mouth Polymicrogyria Postaxial hand polydactyly Intellectual disability, profound Aminoaciduria Pigmentary retinopathy Breathing dysregulation Prominent nose Morning glory anomaly Sensorineural hearing impairment Hyperreflexia Inguinal hernia Cerebellar hypoplasia Dementia Cerebral cortical atrophy Gait ataxia Coarse facial features Difficulty walking Long face Neurodegeneration Cerebral calcification Developmental regression Choreoathetosis Pointed chin Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Hepatomegaly Talipes equinovarus Acidosis Jaundice Camptodactyly Periventricular white matter hyperdensities


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