Endocrinology Book

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Constitutional Short Stature

Aka: Constitutional Short Stature
  1. Signs
    1. Delayed Growth and development in either parent (50%)
    2. Normal birth history
    3. Normal growth for the first several months
    4. Absence of organic or psychologic disease
    5. Discrete interval of severe growth deceleration
      1. Duration: 1-3 years
      2. Onset: under age 2 years
    6. Onset Puberty delayed
    7. Final height appropriate for genetic height potential
  2. Imaging: Bone Age Film
    1. Bone Age lags Chronological age

Dwarfism (C0013336)

Definition (MEDLINEPLUS)

A dwarf is a person of short stature - under 4' 10" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature.

Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.

Definition (MSHCZE) Trpaslictví, malý vzrůst. K poruchám růstu vedou četné poruchy, např. nedostatek růstového hormonu GH tvořeného v předním laloku hypofýzy, defekt receptorů pro GH (Laronův n.), porušená tvorba IGF-I (dř. somatomedin C), který zprostředkovává některé účinky GH, hypotyreóza, předčasná puberta s uzavřením růstových chrupavek, onemocnění pohybového aparátu vč. vrozených (chondrodystrofie), nižší vzrůst je u Turnerova syndromu a mnoha dalších vzácných syndromů. Poruchy růstu mohou mít proporční nebo disproporční ráz. V některých případech lze podávat rekombinantní lidský růstový hormon. Opak gigantismus. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition.
Definition (CSP) condition of being undersized as a result of premature arrest of skeletal growth.
Definition (MSH) A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D004392
ICD10 E34.3
SnomedCT 422065006, 206931003, 237837007, 185797004, 237836003, 90482002, 190584003, 205467007, 248299001, 190585002
English Nanism, DWARFISM, Dwarf, Short stature, constitution, Short stature, constitutional, Short stature, hereditary, Constitutional dwarfism, Physiologic dwarfism, Constitutional short stature, Constitutional short stature (disorder), [D]Short stature, constitutional (context-dependent category), [D]Short stature, constitution, [D]Short stature, constitutional, [D]Short stature, hereditary, dwarfism (diagnosis), dwarfism, Normal dwarfism, True dwarf, Pure dwarfism, constitutional dwarfism, constitutional dwarfism (diagnosis), Dwarfism NOS, Runting, Short stature disorder, Dwarfism [Disease/Finding], dwarf, primordial dwarf, dwarfs, short stature, constitutional short stature, runts, runt, hereditary short stature, Short stature, Little person, [D]Short stature, constitutional (situation), Normal dwarf, Primordial dwarf, Pure dwarf, Nanosoma, Nanosomia, True dwarfism, Primordial dwarfism, Dwarfism (disorder), Primordial dwarfism (disorder), Short stature disorder (disorder), Dwarfism, nanism, constitutional; dwarfism, dwarfism; constitutional, short; stature, constitutional, stature; short, constitutional, Dwarf, NOS, Dwarfism, NOS, Dwarfism (disorder) [Ambiguous]
French NANISME, Nanisme SAI, Maladie des rabougris, Nain, Nanisme
Portuguese NANISMO, Anão, Nanismo NE, De baixa estatura, Nanismo
Spanish ENANISMO, estatura baja constitucional (trastorno), estatura baja constitucional, Enanismo NEOM, Enano, [D]baja estatura constitucional (categoría dependiente del contexto), pigmeo normal, pigmeo puro, baja estatura constitucional, baja estatura constitucional (trastorno), enanismo, enanismo (trastorno), [D]baja estatura constitucional (situación), enanismo fisiológico, [D]baja estatura constitucional, enanismo constitucional, [D]talla baja constitucional, pigmeo primordial, nanosomía, enanismo (concepto no activo), enanismo primordial (trastorno), enanismo primordial, enanismo verdadero (trastorno), enanismo verdadero, Enanismo
German ZWERGWUCHS, Zwerg, Minderwuchs, Zwergwuchs NNB, Nanismus, Zwergwuchs
Dutch dwerggroei NAO, dwergachtig, dwerg, constitutioneel; dwerggroei, dwerggroei; constitutioneel, gestalte; kort, constitutioneel, kort; gestalte, constitutioneel, dwerggroei, Dwerggroei, Groei, dwerg-, Nanisme
Italian Nanismo NAS, Nano, Nanismo
Swedish Dvärgväxt
Czech nanismus, Nanismus, Trpaslík, Zakrslost NOS, Zakrslost
Japanese テイシンチョウショウNOS, 低身長症NOS, テイシンチョウショウ, 矮小者, 小体症, こびと症, 侏儒, 小人症, 低身長症, 小人
Finnish Lyhytkasvuisuus
Russian KARLIKOVOST', MIKROSOMIIA, NANIZM, NANOSOMIIA, КАРЛИКОВОСТЬ, МИКРОСОМИЯ, НАНИЗМ, НАНОСОМИЯ
Croatian PATULJASTI RAST
Polish Niskorosłość, Karłowatość
Hungarian Törpeség, Törpe, Nanismus, Törpenövés k.m.n., Törpenövés
Norwegian Nanisme, Dvergvekst, Kortvoksthet
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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