Intellectual disability, severe, and Narrow mouth

Diseases related with Intellectual disability, severe and Narrow mouth

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Other less relevant matches:

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA 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

High match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Narrow mouth

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Depressed nasal bridge Micrognathia Short stature Macrotia Ptosis Hypertelorism Growth delay Micropenis Hypothyroidism Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Microphthalmia Epicanthus Spasticity Posteriorly rotated ears Downslanted palpebral fissures Cataract Cleft palate Talipes equinovarus Flexion contracture Microcornea High palate Motor delay Pachygyria Cortical dysplasia Intrauterine growth retardation Delayed myelination Brachycephaly Muscular hypotonia Visual impairment Polymicrogyria Hearing impairment Blepharophimosis

Rare Symptoms - Less than 30% cases

Intellectual disability, profound Ventriculomegaly Spastic diplegia Scrotal hypoplasia Abnormal localization of kidney Cerebral visual impairment Wide nasal bridge Postnatal microcephaly Optic atrophy Low-set ears Cerebellar atrophy Macrocephaly Hypogonadism Scoliosis Optic nerve hypoplasia Glaucoma Atrial septal defect Tetraplegia Kyphosis Absent speech Knee flexion contracture Delayed speech and language development Congenital cataract Short nose Patellar hypoplasia Cerebral cortical atrophy Abnormality of the dentition Deeply set eye Retinal coloboma Hydronephrosis Camptodactyly Osteoporosis Agenesis of corpus callosum Microtia Intellectual disability, mild Malar flattening Joint laxity Pectus excavatum Coloboma Severe global developmental delay Kyphoscoliosis Delayed skeletal maturation Failure to thrive Delayed puberty Convex nasal ridge Hypoplasia of the maxilla Respiratory distress Poor speech Neurodegeneration Chorea Aganglionic megacolon Lower limb spasticity Autistic behavior Gastroesophageal reflux Respiratory tract infection Abnormality of metabolism/homeostasis Autism Developmental regression Depressivity Anxiety Patent ductus arteriosus Constipation Pneumonia Recurrent respiratory infections Hyperglycinuria Rigidity Joint hypermobility Posterior uveitis Midface retrusion Slender long bone Abnormal eyebrow morphology Posterior synechiae of the anterior chamber Facial hypertrichosis Narrow nose Dislocated radial head Thin ribs Narrow nasal bridge Single umbilical artery Femoral bowing Hallux valgus Stridor Congenital contracture Laryngomalacia Elbow flexion contracture Sclerocornea Choanal stenosis Recurrent infections Glenoid fossa hypoplasia Myopathy Dysphagia Ataxia Slender metacarpals Aspiration Long metacarpals Distal ulnar hypoplasia Hypoplastic scapulae Narrow foot Camptodactyly of toe Ulnar bowing Long hallux Lateral clavicle hook Eclabion Stereotypy Chronic constipation Severe muscular hypotonia Frontoparietal polymicrogyria Cerebral palsy Abnormality of retinal pigmentation Low anterior hairline Generalized hirsutism Lissencephaly Aplasia/Hypoplasia of the corpus callosum Decreased muscle mass Cerebellar vermis atrophy Abnormality of visual evoked potentials Severe postnatal growth retardation Upper limb spasticity Clitoral hypoplasia Hypoplastic labia minora Spastic tetraparesis Muscle weakness Cerebellar vermis hypoplasia Severe short stature Corneal opacity Neonatal hypotonia Retrognathia Upslanted palpebral fissure Brain atrophy Short palpebral fissure Tetraparesis Hyperreflexia Hypertrichosis Cerebellar hypoplasia Cerebral atrophy Progressive muscle weakness Long philtrum Hypertonia Hyperextensible skin Spastic tetraplegia Anteverted ears Arthrogryposis multiplex congenita Drooling Infantile muscular hypotonia Tented upper lip vermilion Poor head control Premature ovarian insufficiency Myotonia Abnormal pupil morphology Progressive spasticity Poor eye contact Hypoventilation Enlarged cisterna magna Central hypotonia External genital hypoplasia Facial hypotonia Bruxism Hypoplasia of penis Joint contracture of the hand Bilateral cryptorchidism Decreased testicular size Abnormal cerebellum morphology Hirsutism Short philtrum Joint stiffness Low-set, posteriorly rotated ears Central hypoventilation Overlapping toe Neurodevelopmental delay Anteverted nares Peripheral neuropathy Hostility Infantile axial hypotonia Cardiac arrest Microdontia Dental crowding Ectopic posterior pituitary Skeletal muscle atrophy Myopic astigmatism Aglossia Proboscis Macular scar Mandibular aplasia Central hypothyroidism Ventricular septal defect Retinal dysplasia Hypoplasia of the fovea Microglossia Posterior embryotoxon Short middle phalanx of finger Anophthalmia Frontal bossing Hydrocephalus Microretrognathia Mitral regurgitation Abnormally large globe Megalencephaly Thoracic scoliosis Long palpebral fissure Infantile spasms Large for gestational age Postaxial hand polydactyly Blindness Postaxial polydactyly Abnormal cardiac septum morphology Telecanthus High forehead Polydactyly Prominent forehead Arnold-Chiari malformation Pigmentary retinopathy Cavum septum pellucidum Aplasia/Hypoplasia of the radius Edema Cognitive impairment Bilateral ulnar hypoplasia Supernumerary ribs Short femur Short tibia Fibular hypoplasia Flat face Oligodactyly Absent thumb Hypoplasia of the ulna Hypoplasia of the radius Thin vermilion border Strabismus Syndactyly Decreased antibody level in blood Retinal dystrophy Nystagmus Astigmatism Retinopathy Scarring Photophobia Respiratory insufficiency Myopia Pericardial lymphangiectasia Lymphedema Pulmonary lymphangiectasia Irregular dentition Erysipelas Intestinal lymphangiectasia Hypoproteinemia Lymphopenia Dilation of lateral ventricles Abnormal nasal morphology Bowing of the long bones Recurrent otitis media Heart murmur Abnormality of the outer ear Widely spaced teeth Torticollis Macular degeneration Amblyopia Bulbous nose Congenital hypothyroidism Talipes Dilated cardiomyopathy Postnatal growth retardation Proteinuria Thin upper lip vermilion Abnormal heart morphology Prominent occiput Hypoplasia of teeth Feeding difficulties High, narrow palate Ambiguous genitalia Dandy-Walker malformation Underdeveloped nasal alae Asthma Triangular face Everted lower lip vermilion Arachnodactyly Epicanthus inversus Craniosynostosis Protruding ear Abnormality of the skeletal system Multiple bladder diverticula Neonatal asphyxia Abnormal palmar dermatoglyphics Cardiomyopathy Increased vertebral height Capillary malformation Hyperlordosis Round face Full cheeks Downturned corners of mouth Dysmetria Small for gestational age Sparse hair Gait ataxia Blue sclerae Diabetes mellitus Tremor Dysarthria Sensorineural hearing impairment Thick corpus callosum Vascular ring Hypotelorism Renal hypoplasia Kinetic tremor Brisk reflexes Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Down-sloping shoulders Ketoacidosis High pitched voice Polyuria Fine hair Hyperglycemia Hypoplasia of the brainstem Polydipsia Oligodontia Type I diabetes mellitus Truncal ataxia Abnormal vertebral morphology Microphakia


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