Global developmental delay, and Blue sclerae

Diseases related with Global developmental delay and Blue sclerae

In the following list you will find some of the most common rare diseases related to Global developmental delay 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

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 ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

Other less relevant matches:

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

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

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Blue sclerae

Symptoms // Phenotype % cases
Joint laxity Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Recurrent fractures Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Joint hypermobility Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Vertebral compression fractures Growth delay Intellectual disability Downslanted palpebral fissures Scoliosis Microcephaly Midface retrusion Proptosis Triangular face Frontal bossing Micrognathia Wormian bones Hypertelorism Thin ribs Short stature Bowing of the long bones Platyspondyly Failure to thrive Increased susceptibility to fractures

Rare Symptoms - Less than 30% cases

Prominent forehead Bruising susceptibility Hydrocephalus Cleft palate Brachydactyly Talipes equinovarus Pectus excavatum Hyperextensible skin Myopathy Feeding difficulties Kyphoscoliosis Narrow mouth Spasticity Muscle weakness Hip dislocation Pathologic fracture Muscular hypotonia Femoral bowing Cutis laxa Protruding ear Brachycephaly Delayed speech and language development Inguinal hernia Low-set ears Epicanthus Hernia Abnormal facial shape Motor delay High palate Kyphosis Osteoporosis Intrauterine growth retardation Broad forehead Arachnodactyly Autism Patent foramen ovale Delayed gross motor development Bilateral talipes equinovarus Generalized osteoporosis Adducted thumb Thin bony cortex Fragile skin Facial hypotonia Telecanthus Biconcave vertebral bodies Joint dislocation Dental crowding Camptodactyly Mitral regurgitation Pain Long philtrum Cerebral atrophy Mitral valve prolapse Generalized muscle weakness Talipes Arthralgia Scarring Myalgia Hypoplasia of the musculature Growth abnormality Abnormality of the skeletal system High pitched voice Delayed eruption of teeth Microdontia Abnormality of the ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Hydrops fetalis Abnormality of dental enamel Abnormality of the voice Hyperthyroidism Craniosynostosis Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Joint hyperflexibility Skeletal dysplasia Ventriculomegaly Hypotelorism Malar flattening Agenesis of corpus callosum Mandibular prognathia Gastroesophageal reflux Deeply set eye Postnatal growth retardation Bulbous nose Hypoplasia of the maxilla Large fontanelles Severe short stature Congenital hip dislocation Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Macrocephaly Edema Long palpebral fissure Paresthesia Disproportionate tall stature Type 1 collagen overmodification Tibial bowing Slender long bone Radial bowing Barrel-shaped chest Decreased skull ossification Multiple prenatal fractures Externally rotated/abducted legs Sparse hair Disproportionate short-limb short stature Flat face Decreased body weight Epiphyseal dysplasia Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Delayed cranial suture closure Wide anterior fontanel Seizures Cerebellar atrophy Cerebellar hypoplasia Arnold-Chiari malformation Hypoplasia of the pons Schizencephaly Cerebellar agenesis Strabismus Hypoplasia of the corpus callosum Retrognathia Short metacarpal Thin upper lip vermilion Autistic behavior Everted lower lip vermilion Overfolded helix Cupped ear Narrow chest Round face Craniofacial disproportion Hearing impairment Long eyelashes Exertional dyspnea Cirrhosis Brain atrophy Delayed myelination Increased serum lactate Exercise intolerance Ragged-red muscle fibers Glucose intolerance Mitochondrial myopathy Poor speech Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Wide nasal bridge Dysphagia Abnormality of the dentition Pneumonia Umbilical hernia Lactic acidosis Malabsorption Ataxia Abnormality of movement Nystagmus Visual impairment Syndactyly Absent speech Clinodactyly Pectus carinatum Toe syndactyly Chorea Acidosis Cerebral visual impairment Rotary nystagmus Ankyloglossia Hyperreflexia Cardiomyopathy Hyporeflexia Babinski sign Dyspnea Orbital craniosynostosis


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