Abnormality of the skeletal system, and Blue sclerae

Diseases related with Abnormality of the skeletal system and Blue sclerae

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


Top matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14


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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ).Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.

OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 Is also known as oi, type xiv

Related symptoms:

  • Hearing impairment
  • Abnormality of the dentition
  • Osteopenia
  • Recurrent fractures
  • Blue sclerae


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14

Low match OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19


Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).

Related symptoms:

  • Short stature
  • Scoliosis
  • Pectus excavatum
  • Severe short stature
  • Kyphoscoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19

Low match OSTEOGENESIS IMPERFECTA, TYPE XV; OI15


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

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Other less relevant matches:

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2


PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 Is also known as panhypopituitarism|ateliotic dwarfism with hypogonadism|pituitary dwarfism iii|hanhart dwarfism

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Failure to thrive
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2

Low match OSTEOGENESIS IMPERFECTA, TYPE IX; OI9


Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN


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

Low match OSTEOGENESIS IMPERFECTA, TYPE XI; OI11


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Abnormality of the dentition
  • Brachycephaly


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11

Low match OSTEOGENESIS IMPERFECTA TYPE 4


Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae|oi type 4|oi, type iv

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Kyphosis
  • Bruising susceptibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 4

Low match OTOFACIOCERVICAL SYNDROME 2; OTFCS2


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

Low match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8


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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Blue sclerae

Symptoms // Phenotype % cases
Recurrent fractures Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Increased susceptibility to fractures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Wormian bones Hearing impairment Intellectual disability Dentinogenesis imperfecta Growth delay Joint laxity Vertebral compression fractures Global developmental delay Kyphosis Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Vertebral wedging Joint hypermobility Wide anterior fontanel Triangular face Disproportionate short-limb short stature Femoral bowing Pectus excavatum Multiple prenatal fractures Bowing of limbs due to multiple fractures Abnormality of the dentition Low-set ears Downslanted palpebral fissures Severe short stature Retrognathia Osteoporosis Thin ribs Biconcave vertebral bodies Rhizomelia Microcephaly Autism Platyspondyly Cupped ear Pectus carinatum Reduced bone mineral density Otosclerosis Biconcave flattened vertebrae Intellectual disability, moderate Clinodactyly Spondylolisthesis Syndactyly Femoral bowing present at birth, straightening with time Bruising susceptibility Mild short stature Mixed hearing impairment Carious teeth Inguinal hernia Externally rotated/abducted legs Decreased skull ossification Barrel-shaped chest Radial bowing Slender long bone Tibial bowing Delayed cranial suture closure Short metacarpal Round face Narrow chest Proptosis Mastoiditis Tapered finger Alacrima Lacrimal duct stenosis Down-sloping shoulders Elevated alkaline phosphatase Preauricular pit Cutaneous syndactyly Scapular winging Microretrognathia Long eyelashes Dental malocclusion Gliosis Protrusio acetabuli Strabismus Coxa vara Failure to thrive Hypopituitarism Adrenal insufficiency Increased body weight Growth hormone deficiency Hypoglycemia Hypothyroidism Hypogonadism Seizures Panhypopituitarism Cerebellar agenesis Schizencephaly Hypoplasia of the pons Arnold-Chiari malformation Cerebellar hypoplasia Moderately short stature Progressive hearing impairment Neonatal hypoglycemia Adrenocorticotropic hormone deficiency Abnormality of the skin Cerebellar atrophy Brachycephaly Flexion contracture Overfolded helix Everted lower lip vermilion Autistic behavior Thin upper lip vermilion Midface retrusion Hypoplasia of the corpus callosum Hypoglycemic seizures Epicanthus Delayed speech and language development Macrocephaly Craniopharyngioma Enlarged pituitary gland Small pituitary gland Large sella turcica Prolactin deficiency Type 1 collagen overmodification



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