Growth delay, and Severe short stature

Diseases related with Growth delay and Severe short stature

In the following list you will find some of the most common rare diseases related to Growth delay and Severe short stature that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Hypothyroidism
  • Proportionate short stature


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK

ISOLATED GROWTH HORMONE DEFICIENCY TYPE II Is also known as congenital isolated growth hormone deficiency type ii|congenital ighd type ii|ighd ii|congenital isolated gh deficiency type ii|pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant|growth hormone deficiency, isolated, autosomal

Related symptoms:

  • Growth delay
  • Severe short stature
  • Growth hormone deficiency
  • Ectopic posterior pituitary
  • Pituitary dwarfism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE II

Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY Is also known as kowarski syndrome|pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin|biodefective growth hormone

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Severe short stature


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY

Other less relevant matches:

IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly|congenital isolated growth hormone deficiency type ib|congenital ighd type ib|congenital isolated gh deficiency type ib|dwarfism of sindh|isolated growth hormone deficiency, type ib, formerly

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

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

SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 Is also known as costovertebral segmentation anomalies|scoliosis, congenital, with or without rib anomalies|spondylocostal dysplasia|spondylothoracic dysostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Short neck
  • Severe short stature
  • Pectus carinatum


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5

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

Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as liver glycogen phosphorylase deficiency|glycogen storage disease type vi|gsd type 6|glycogen storage disease type 6|gsd type vi|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|gsd due to liver glycogen phosphorylase deficiency|glycogenosis t

Related symptoms:

  • Short stature
  • Hypoglycemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Growth delay and Severe short stature

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Growth hormone deficiency Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Proportionate short stature Uncommon - Between 30% and 50% cases
Scoliosis Rare - less than 30% cases

Other less frequent symptoms

Patients with Growth delay and Severe short stature. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Pectus carinatum Blue sclerae Pectus excavatum Truncal obesity Obesity Frontal bossing Pituitary dwarfism Hypothyroidism Hypoglycemia Low back pain Butterfly vertebrae Disproportionate short-trunk short stature Supernumerary ribs Missing ribs Posterior rib fusion Seizures Failure to thrive Neonatal hypoglycemia Hypogonadism Increased body weight Adrenal insufficiency Hypopituitarism Vertebral fusion Panhypopituitarism Adrenocorticotropic hormone deficiency Hypoglycemic seizures Prolactin deficiency Large sella turcica Small pituitary gland Enlarged pituitary gland Syringomyelia Rhizomelia Hemivertebrae Small epiphyses Ectopic posterior pituitary Abnormality of metabolism/homeostasis Intellectual disability Intellectual disability, mild Clinodactyly Platyspondyly Wide intermamillary distance Small nail Metaphyseal irregularity Atherosclerosis Abnormal vertebral morphology Precocious atherosclerosis Abdominal obesity Kyphoscoliosis Osteopenia Recurrent fractures Biconcave vertebral bodies Vertebral wedging Moderately short stature Short neck Abnormality of the ribs Craniopharyngioma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Renal cell carcinoma, related diseases and genetic alterations Arthritis and Proteinuria, related diseases and genetic alterations Melanoma and Brain atrophy, related diseases and genetic alterations Fever and Renal agenesis, related diseases and genetic alterations Visual impairment and Cerebellar atrophy, related diseases and genetic alterations