Intellectual disability, and Retrognathia

Diseases related with Intellectual disability and Retrognathia

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

Top matches:

Related symptoms:

  • Seizures
  • Microcephaly
  • Cognitive impairment
  • Intellectual disability, severe
  • Retrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS SYNDROME

Other less relevant matches:

Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Medium match ALG11-CDG

ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

ALG11-CDG Is also known as cdg-ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation type ip|cdg syndrome type ip|carbohydrate deficient glycoprotein syndrome type ip|cdg1p

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG11-CDG

Top 5 symptoms//phenotypes associated to Intellectual disability and Retrognathia

Symptoms // Phenotype % cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Retrognathia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, moderate Autism Downslanted palpebral fissures Strabismus Delayed speech and language development

Rare Symptoms - Less than 30% cases

Motor delay High forehead Feeding difficulties Epicanthus Autistic behavior Everted lower lip vermilion Blue sclerae Scoliosis Cupped ear Muscular hypotonia Intellectual disability, severe Microretrognathia Cognitive impairment Hypertelorism Short nose Abnormality of the skeletal system Hearing impairment Failure to thrive Cerebellar atrophy Growth delay Muscular hypotonia of the trunk Relative macrocephaly Absent speech Delayed gross motor development Drooling Stereotypy Open mouth Apraxia Neonatal hypotonia Delayed myelination Broad nasal tip Poor speech Scaling skin Broad forehead Attention deficit hyperactivity disorder Irritability Aggressive behavior Anxiety Hyperactivity Prominent forehead Obesity Behavioral abnormality Macrocephaly Language impairment Long philtrum Hypertonia Chronic bronchitis Cutaneous syndactyly Preauricular pit Mixed hearing impairment Scapular winging Long eyelashes Dental malocclusion Gliosis Tapered finger Carious teeth Down-sloping shoulders Lacrimal duct stenosis Vomiting Inverted nipples Clinodactyly Syndactyly Type I transferrin isoform profile Opisthotonus Speech apraxia Alacrima Large forehead Mastoiditis Sensorineural hearing impairment Delayed ability to walk Nystagmus Atypical absence seizures Agammaglobulinemia Abnormal hair quantity 11 pairs of ribs Severe failure to thrive Decreased body weight Underdeveloped nasal alae Postnatal growth retardation Intrauterine growth retardation Short stature Bifid epiglottis Thyroid agenesis Bilateral choanal atresia Congenital hypothyroidism Hypoplasia of the corpus callosum Curly hair Choanal atresia Polyhydramnios Hypothyroidism Cleft palate Inability to walk Deeply set eye Gait ataxia Frontal bossing Sloping forehead Neurological speech impairment Steep acetabular roof Midface retrusion Short chin Abnormal facial shape Decreased antibody level in blood Round face Respiratory tract infection Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Anteverted nares Depressed nasal bridge High palate Knee dislocation Thin upper lip vermilion Hammertoe Absence seizures Hip dysplasia Arthrogryposis multiplex congenita Hip dislocation Camptodactyly of finger Intellectual disability, mild Flexion contracture Overfolded helix Joint hypermobility Joint laxity Temperature instability


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