Intellectual disability, severe, and Recurrent respiratory infections

Diseases related with Intellectual disability, severe and Recurrent respiratory infections

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

Top matches:

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

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Medium match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Recurrent respiratory infections

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
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Ataxia Delayed speech and language development Myoclonus Respiratory tract infection Short nose Hyperreflexia Dysphagia Scoliosis Cerebral cortical atrophy Tented upper lip vermilion Gingival overgrowth Intellectual disability, profound Severe global developmental delay Muscular hypotonia Flexion contracture Hearing impairment Coarse facial features Optic atrophy Developmental regression Pneumonia Macrocephaly Low-set ears Abnormality of the dentition Depressed nasal bridge Behavioral abnormality Gastroesophageal reflux Hyperactivity Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Progressive neurologic deterioration Thick vermilion border Open mouth Recurrent pneumonia Absent speech Midface retrusion Macrotia Malar flattening Blindness Anteverted nares Feeding difficulties Epicanthus Abnormal facial shape Encephalopathy Poor eye contact Cerebellar hypoplasia Thin skin Abnormality of eye movement Constipation Hepatomegaly Joint stiffness Recurrent upper respiratory tract infections Infantile muscular hypotonia Hypertelorism Severe muscular hypotonia Autism Underdeveloped nasal alae Lower limb spasticity Failure to thrive Tapered finger Downslanted palpebral fissures High palate Respiratory insufficiency Stereotypy Limb ataxia Cerebral atrophy Broad-based gait EEG abnormality Hyporeflexia Hypertonia Talipes equinovarus Skeletal muscle atrophy Dysarthria Dementia Chorea Posteriorly rotated ears Tetraplegia Peripheral neuropathy Autistic behavior Progressive spasticity Abnormality of movement Intellectual disability, progressive Generalized myoclonic seizures Nystagmus Strabismus Psychomotor deterioration Poor speech Arteriovenous malformation Biparietal narrowing Narrow forehead Hypsarrhythmia Pachygyria Progressive microcephaly Stridor Abnormal palate morphology Spinal muscular atrophy Cerebral palsy Infantile spasms Atrophy/Degeneration affecting the brainstem Failure to thrive in infancy Neuronal loss in central nervous system Drowsiness Palpebral edema Epileptic spasms External ear malformation Cachexia Congenital laryngeal stridor Reduction of oligodendroglia Diffuse cerebral sclerosis Muscle stiffness Spastic diplegia Bowel incontinence Limitation of joint mobility Arthrogryposis multiplex congenita Head tremor Visual loss Scanning speech Cerebellar atrophy Abnormality of the urinary system Edema Retrognathia Abnormality of the eye Feeding difficulties in infancy Increased body weight Polymicrogyria Rotary nystagmus Hydrocephalus Progressive spastic quadriplegia Ventriculomegaly Cerebral dysmyelination Macrogyria Head titubation Full cheeks Abnormality of visual evoked potentials Brain atrophy Sudanophilic leukodystrophy CNS hypomyelination Hypothyroidism Progressive encephalopathy Radial deviation of finger Facial capillary hemangioma U-Shaped upper lip vermilion Abnormality of the rib cage Thickened nuchal skin fold Scaphocephaly Hyperactive deep tendon reflexes Broad palm Short finger Deep philtrum Cognitive impairment Multicystic kidney dysplasia Congenital hip dislocation Broad thumb Small nail Wide intermamillary distance Single transverse palmar crease Wide nose Dolichocephaly Cataract Osteopenia Thin upper lip vermilion Generalized amyotrophy Oligosacchariduria Long-tract signs Angiokeratoma corporis diffusum Progressive psychomotor deterioration Angiokeratoma Vascular skin abnormality Diffuse white matter abnormalities Vegetative state Clonus Skeletal dysplasia Cerebral visual impairment Lymphedema Cardiomegaly Generalized-onset seizure Vertigo Congenital cataract Abnormality of the cerebral white matter Apnea Hypertrophic cardiomyopathy Wide mouth Micropenis Edema of the lower limbs Undetectable visual evoked potentials Narrow mouth Brachycephaly Patent ductus arteriosus Depressivity Abnormality of metabolism/homeostasis Recurrent infections Myopathy Cryptorchidism Peripheral dysmyelination Anxiety Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Infantile encephalopathy Porencephalic cyst Periventricular leukomalacia Developmental stagnation Rigidity Muscular hypotonia of the trunk Inguinal hernia Chronic constipation Clinodactyly Obesity Short neck Cleft palate Hostility Infantile axial hypotonia Central hypoventilation Bruxism Facial hypotonia Neurodegeneration Central hypotonia Hypoventilation Myotonia Premature ovarian insufficiency Poor head control Optic nerve hypoplasia Drooling Aspiration Aganglionic megacolon Leukodystrophy Upper airway obstruction Involuntary movements Everted lower lip vermilion Sparse scalp hair Eczema Microdontia Ectodermal dysplasia Hypodontia Hypoplasia of the maxilla Delayed eruption of teeth Short distal phalanx of finger Hypohidrosis Dry skin Hypotrichosis Sparse hair Hyperhidrosis Prominent forehead Immunodeficiency Respiratory distress Depressed nasal ridge Sparse and thin eyebrow Fever Aplasia/Hypoplasia of the eyebrow Taurodontia Soft skin Absent eyelashes Rhinitis Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Anhidrosis Hoarse voice Absent eyebrow Brittle hair Prominent supraorbital ridges Dysphonia Sparse eyelashes Short chin Type I diabetes mellitus Frontal bossing Hypertension Heat intolerance Relative macrocephaly Atypical absence seizures Personality disorder Abnormality of brainstem morphology Generalized tonic seizures Enlarged cisterna magna Abnormality of the periventricular white matter Atonic seizures Epileptic encephalopathy CNS infection Focal-onset seizure Falls Generalized tonic-clonic seizures Mental deterioration Aggressive behavior High forehead Ptosis Frontotemporal cerebral atrophy EEG with focal sharp slow waves Happy demeanor Bulbous nose Impaired social interactions Poor coordination Molar tooth sign on MRI Dandy-Walker malformation Esotropia Generalized muscle weakness Inability to walk Anal atresia Agenesis of corpus callosum Talipes Hypermetropia Attention deficit hyperactivity disorder Coloboma Protruding ear Abnormality of the nervous system Difficulty walking Anodontia Conical tooth Clumsiness Abnormally large globe Congenital generalized lipodystrophy Absence of subcutaneous fat Generalized lipodystrophy Prominent nasal tip Narrow naris Narrow nasal ridge Dimple chin Premature skin wrinkling Tented philtrum Progeroid facial appearance Self-mutilation Shallow orbits Narrow nasal bridge Opisthotonus Mask-like facies Lipodystrophy Loss of facial adipose tissue Narrow nasal tip Spastic tetraparesis Paralysis Choreoathetosis Spastic tetraplegia Premature birth Paraplegia Spastic paraplegia Neurological speech impairment Abnormal pyramidal sign Neonatal hypotonia Abnormality of the forehead Babinski sign Kyphosis Dystonia Gait disturbance Tremor Visual impairment Short stature Increased susceptibility to fractures Decreased testicular size Anterior hypopituitarism Aplasia/Hypoplastia of the eccrine sweat glands Sleep disturbance Hirsutism Synophrys Corneal opacity Splenomegaly Diarrhea Hypoplastic-absent sebaceous glands Periorbital hyperpigmentation Growth abnormality Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Concave nail Split hand Coarse hair Febrile seizures Growth delay High, narrow palate Short philtrum Postnatal growth retardation Polyhydramnios Dyspnea Proptosis Micrognathia Dense calvaria Thickened calvaria Ovoid thoracolumbar vertebrae Thickened ribs Central nervous system degeneration Heparan sulfate excretion in urine Visceromegaly Asymmetric septal hypertrophy Dysostosis multiplex Restlessness Increased urinary O-linked sialopeptides


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