Intellectual disability, and Blue sclerae

Diseases related with Intellectual disability and Blue sclerae

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

Top matches:

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

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

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

Other less relevant matches:

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

High match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

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

Top 5 symptoms//phenotypes associated to Intellectual disability and Blue sclerae

Symptoms // Phenotype % cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Global developmental delay Brachydactyly Abnormal facial shape Short stature Joint laxity Prominent forehead Seizures Microdontia Syndactyly Clinodactyly Epicanthus Delayed puberty Deeply set eye High pitched voice Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Osteoarthritis Down-sloping shoulders Cryptorchidism Hypohidrosis Hypertelorism Hypoglycemia Hypotelorism Cleft palate Spasticity Depressed nasal ridge Hypoplasia of penis Scoliosis Pectus excavatum Kyphoscoliosis Delayed eruption of teeth Prominent superficial veins High forehead Severe short stature Autism Short toe Reduced number of teeth Hypercholesterolemia Abnormality of the elbow Failure to thrive Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Cutis laxa Low-set ears Delayed speech and language development Hypoplasia of the corpus callosum Large fontanelles Midface retrusion Osteoporosis Retrognathia Fine hair Joint hypermobility Underdeveloped supraorbital ridges Prematurely aged appearance Cupped ear Recurrent fractures Abnormality of the skeletal system Hip dislocation Truncal obesity Sparse hair Motor delay Narrow nasal ridge Diarrhea Recurrent infections Respiratory distress Triangular face Cognitive impairment Postnatal growth retardation Frontal bossing Ventriculomegaly Hydrocephalus Malar flattening Agenesis of corpus callosum Brachycephaly Mandibular prognathia Gastroesophageal reflux Osteopenia Protruding ear Neoplasm Broad forehead Bulbous nose Hypoplasia of the maxilla Bowing of the long bones Congenital hip dislocation Growth abnormality Redundant skin Premature skin wrinkling Colpocephaly Abnormal glycosylation Obesity Ketoacidosis Pneumonia Round face Hypothyroidism Macrotia Hyperlordosis Small for gestational age Dysmetria Downturned corners of mouth Full cheeks Delayed myelination Renal hypoplasia Gait ataxia Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Maternal diabetes Oligodontia Polydipsia Hypoplasia of the brainstem Hyperglycemia Polyuria Narrow mouth Diabetes mellitus Kinetic tremor Short long bone Growth hormone deficiency Progressive visual loss Brisk reflexes Eczema Abnormal lung morphology Chronic diarrhea Lymphopenia Increased body weight Keratitis Intellectual disability, severe External genital hypoplasia Recurrent hypoglycemia Proportionate short stature Concave nasal ridge Immune dysregulation Delayed menarche Lymphoid interstitial pneumonia Dysarthria Tremor Dermal translucency Abnormality of digit Excessive wrinkled skin Lacrimal duct stenosis Long eyelashes Microretrognathia Scapular winging Cutaneous syndactyly Preauricular pit Mixed hearing impairment Alacrima Gliosis Mastoiditis Generalized hypotonia Ataxia Nystagmus Feeding difficulties Visual impairment Absent speech Dental malocclusion Tapered finger Toe syndactyly Schizencephaly Cerebellar hypoplasia Platyspondyly Arnold-Chiari malformation Increased susceptibility to fractures Thin ribs Hypoplasia of the pons Vertebral compression fractures Cerebellar agenesis Carious teeth Strabismus Cerebellar atrophy Thin upper lip vermilion Autistic behavior Everted lower lip vermilion Overfolded helix Intellectual disability, moderate Pectus carinatum Abnormality of movement Congenital glaucoma Pes planus Hitchhiker thumb Talon cusp Flexion contracture Hernia Inguinal hernia Posteriorly rotated ears Glaucoma Blepharophimosis Short hallux Thin vermilion border Underdeveloped nasal alae Thin skin Elbow flexion contracture Narrow palpebral fissure Pyloric stenosis Athetosis Diastema Carpal synostosis Chorea Synophrys Cerebral visual impairment Rotary nystagmus Ankyloglossia Abnormality of the skull Abnormality of the endocrine system Optic atrophy Abnormality of the dentition Highly arched eyebrow Tarsal synostosis Hypodontia Short metacarpal Bilateral sensorineural hearing impairment Short metatarsal Deep philtrum Abnormality of the hand Radioulnar synostosis Increased vertebral height


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