Intellectual disability, severe, and Oral cleft

Diseases related with Intellectual disability, severe and Oral cleft

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME TYPE 14


Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

Medium match HOLOPROSENCEPHALY 5; HPE5


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

Medium match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


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' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hydrocephalus Growth delay Abnormal facial shape Absent speech Feeding difficulties Neonatal hypotonia Short nose Microphthalmia Short philtrum Motor delay Muscle weakness Hearing impairment Hypertelorism Hypoplasia of the corpus callosum Cryptorchidism

Rare Symptoms - Less than 30% cases


Smooth philtrum Cleft upper lip Synophrys Upslanted palpebral fissure Round face Downturned corners of mouth Hypotelorism Severe muscular hypotonia Bruxism Hypermetropia Telecanthus Microretrognathia Trigonocephaly High palate Depressed nasal bridge Narrow forehead Cataract Skeletal muscle atrophy Scoliosis Flexion contracture Micrognathia Highly arched eyebrow Low-set ears Protruding ear Abnormality of the cerebral white matter Muscular hypotonia Sensorineural hearing impairment Cerebellar hypoplasia Hypoplasia of the pons Wide nasal bridge Aganglionic megacolon Broad nasal tip Poor speech Absence seizures Tented upper lip vermilion Muscular dystrophy Hypertonia Elevated serum creatine phosphokinase Delayed speech and language development Cleft lip Hyperactivity Mild microcephaly Babinski sign Retrognathia Tented philtrum Hypoglycemia Broad eyebrow Neonatal hypoglycemia Dysphonia Sacral dimple Feeding difficulties in infancy Dolichocephaly Thick eyebrow High, narrow palate Depressivity Spinal muscular atrophy Oral-pharyngeal dysphagia Type II lissencephaly Dysphagia Skeletal muscle hypertrophy Pachygyria Heterotopia Lissencephaly Aplasia/Hypoplasia of the corpus callosum Congenital contracture Congenital muscular dystrophy Hypoplasia of the brainstem Congenital glaucoma Moderate myopia Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Buphthalmos Peters anomaly Cerebellar dysplasia Cerebellar cyst Persistent pupillary membrane Submucous cleft soft palate Developmental regression Short stature Vesicoureteral reflux Prominent metopic ridge Prominent nasal tip Long upper lip Intrauterine growth retardation Alopecia Hypotrichosis Ichthyosis Iris coloboma Convex nasal ridge Long nose Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Renal dysplasia Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Partial agenesis of the corpus callosum Widely spaced teeth Failure to thrive Deeply set eye Spasticity Cerebellar vermis hypoplasia Epicanthus Dystonia Long philtrum Agenesis of corpus callosum Prominent forehead Thin upper lip vermilion Muscular hypotonia of the trunk Short palpebral fissure Abnormality of the pinna Ataxia Small for gestational age Neurological speech impairment Thin vermilion border Wide nose Bifid uvula Wide intermamillary distance Encephalocele Respiratory insufficiency Intellectual disability, profound Ptosis Molar tooth sign on MRI Hamartoma Increased number of teeth Bifid tongue Lobulated tongue Hamartoma of tongue Aplasia of the epiglottis Macrocephaly Dandy-Walker malformation Abnormality of the skeletal system Anteverted nares Cerebral atrophy Intellectual disability, mild Midface retrusion Macrotia Coloboma Broad forehead Brain atrophy Postaxial polydactyly Astigmatism Hyperphosphatemia Brachycephaly Obesity Short neck Febrile seizures Postnatal microcephaly Progressive microcephaly Low anterior hairline Truncal obesity Retinopathy Slender finger Overweight Elevated alkaline phosphatase Unilateral cleft lip Abnormality of the cerebellar vermis Horizontal eyebrow Polydactyly Micropenis Atrial septal defect Macroglossia Abnormal hair quantity Intellectual disability, progressive Myotonia Mask-like facies Non-midline cleft lip Abnormality of the endocrine system Testicular atrophy Abnormality of the upper urinary tract First degree atrioventricular block Hip dislocation Hernia of the abdominal wall Visual impairment Myopia Ventriculomegaly Dilatation Glaucoma Congenital cataract Polymicrogyria EMG abnormality Facial palsy Microcornea Single median maxillary incisor Exotropia Holoprosencephaly Deep philtrum Absent thumb Abnormality of digit Facial cleft Scaphocephaly Cyclopia Abnormality of cardiovascular system morphology Proboscis Small posterior fossa Exencephaly Strabismus Hypoglycosylation of alpha-dystroglycan Oligohydramnios Inability to walk Respiratory distress Hypoplasia of the bladder



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