Short stature, and Blue sclerae

Diseases related with Short stature and Blue sclerae

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium 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

Medium match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


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

Medium 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

Top 5 symptoms//phenotypes associated to Short stature and Blue sclerae

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

Patients with Short stature and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Platyspondyly Kyphosis Pectus excavatum Kyphoscoliosis Dentinogenesis imperfecta Vertebral compression fractures Growth delay Triangular face Global developmental delay Proptosis Severe short stature Thin ribs

Rare Symptoms - Less than 30% cases


Osteoporosis Wide anterior fontanel Disproportionate short-limb short stature High pitched voice Femoral bowing Multiple prenatal fractures Bowing of limbs due to multiple fractures Macrocephaly Reduced bone mineral density Decreased skull ossification Joint laxity Motor delay Hypoglycemia Vertebral wedging Pectus carinatum Rhizomelia Biconcave vertebral bodies Intellectual disability High forehead Coronal craniosynostosis Prominent forehead Aplasia/Hypoplasia involving the nose Talipes equinovarus Cleft palate Generalized hypotonia Fractures of the long bones Delayed puberty Narrow iliac wings Delayed eruption of teeth Lambdoidal craniosynostosis Turricephaly Hip dislocation Microdontia Microretrognathia Oligohydramnios Craniosynostosis Postnatal growth retardation Hypoplasia of penis Retrognathia Midface retrusion Hydrocephalus Ventriculomegaly Sparse hair Flat face Delayed skeletal maturation Hypercholesterolemia Brachydactyly Abnormal facial shape Micrognathia Craniofacial disproportion Advanced ossification of carpal bones Frontal bossing Osteoarthritis Hypohidrosis Short toe Carpal synostosis Reduced number of teeth Decreased body weight Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Abnormality of the skull Flared metaphysis Epiphyseal dysplasia Hyperextensible skin Abnormality of the endocrine system Depressed nasal ridge Cutis laxa Long upper lip Femoral bowing present at birth, straightening with time Downslanted palpebral fissures Growth hormone deficiency Small pituitary gland Large sella turcica Prolactin deficiency Hypoglycemic seizures Adrenocorticotropic hormone deficiency Panhypopituitarism Neonatal hypoglycemia Hypopituitarism Adrenal insufficiency Increased body weight Hypothyroidism Craniopharyngioma Hypogonadism Failure to thrive Seizures Cerebellar agenesis Schizencephaly Hypoplasia of the pons Arnold-Chiari malformation Autism Cerebellar hypoplasia Microcephaly Moderately short stature Enlarged pituitary gland Joint hypermobility High palate Inguinal hernia Hypertelorism Type 1 collagen overmodification Externally rotated/abducted legs Barrel-shaped chest Radial bowing Slender long bone Tibial bowing Delayed cranial suture closure Short metacarpal Round face Narrow chest Biconcave flattened vertebrae Flexion contracture Otosclerosis Spondylolisthesis Mild short stature Bruising susceptibility Hearing impairment Protrusio acetabuli Elevated alkaline phosphatase Coxa vara Abnormality of the skin Brachycephaly Abnormality of the dentition Hypoplastic nasal bridge



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