Intellectual disability, and Frontal bossing

Diseases related with Intellectual disability and Frontal bossing

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


Top matches:

High match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

High match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


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

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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Other less relevant matches:

High match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

High match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match PILAROWSKI-BJORNSSON SYNDROME; PILBOS


Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

High match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

High match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

High match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR


NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

High match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Top 5 symptoms//phenotypes associated to Intellectual disability and Frontal bossing

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Intellectual disability, mild Strabismus

Rare Symptoms - Less than 30% cases


Hypertelorism Pectus excavatum Kyphosis Intellectual disability, severe Apraxia Depressed nasal bridge Inability to walk Long face Protruding ear Midface retrusion Tall stature Pointed chin Dysarthria Abnormal facial shape Wide nasal bridge Optic atrophy Short stature Ataxia Coarse facial features Elongated superior cerebellar peduncle Conductive hearing impairment Abnormality of the ribs Periorbital fullness Polymicrogyria Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Cerebellar vermis hypoplasia Abnormal cerebellum morphology Postaxial polydactyly Flared metaphysis Polydactyly Dermal translucency Nystagmus Broad eyebrow Hyperostosis Microcephaly Stenosis of the external auditory canal Self-injurious behavior Frontal upsweep of hair Large forehead Anteriorly placed anus Relative macrocephaly Abnormality of the pinna Neonatal hypotonia Hyperactivity Constipation Abnormal heart morphology Failure to thrive Poor eye contact Neurodevelopmental delay Severe muscular hypotonia Craniofacial hyperostosis Involuntary movements Epileptic encephalopathy Cerebral cortical atrophy Encephalopathy Absent speech Cerebral atrophy Dystonia Hypoplasia of the corpus callosum Spasticity Facial hyperostosis Diaphyseal dysplasia Diaphyseal sclerosis Diaphyseal thickening Speech apraxia Triangular face Postnatal growth retardation Mandibular prognathia Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Arachnodactyly Narrow chest Prominent nasal bridge Pectus carinatum High palate Cognitive impairment Scoliosis Deeply set eye Retrognathia Gait ataxia Cerebellar atrophy Motor delay Feeding difficulties Visual field defect Plagiocephaly Facial asymmetry Abnormality of eye movement Hearing impairment Slender build Tremor Developmental regression Lewy bodies Autism Immunodeficiency Downslanted palpebral fissures Growth delay Cupped ear Pes planus Macrotia Cryptorchidism Muscular hypotonia Cogwheel rigidity Shuffling gait Megalencephaly Dementia Resting tremor Slurred speech Choreoathetosis Abnormality of extrapyramidal motor function Bradykinesia Cerebral calcification Parkinsonism Dyskinesia Poor speech Abnormality of movement Neurological speech impairment Rigidity Underdeveloped superior crus of antihelix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Hepatosplenomegaly, related diseases and genetic alterations Macrocephaly and Postaxial polydactyly, related diseases and genetic alterations Myopathy and Eosinophilia, related diseases and genetic alterations Myopathy and Sudden cardiac death, related diseases and genetic alterations Ptosis and Downturned corners of mouth, related diseases and genetic alterations Peripheral neuropathy and Distal sensory impairment, related diseases and genetic alterations

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