Tallness syndrome

Classification according to ICD-10
Q87.3	Congenital malformation syndromes with increased tissue growth in early childhood
ICD-10 online (WHO version 2019)

Tall stature syndrome describes a group of less common congenital diseases with the main characteristic of a circumscribed or complete gigantic stature that can already be detected during pregnancy , shortly after birth or in the first years of life .

In the Orphanet database , in addition to "tall stature syndrome ", the following other syndromes can be found with this keyword:

• Kosaki tall stature syndrome
• Malan's syndrome
• Segmental progressive tall stature syndrome with fibroadipose hyperplasia

The systematic classification includes the following diseases as large-growth syndromes:

• Bannayan-Riley-Ruvalcaba syndrome
• Beckwith-Wiedemann syndrome
• CLAPO syndrome
• Elejalde's disease
• Enchondromatosis
• Embryofetopathia diabetica
• GLOW syndrome
• Hemi 3 syndrome
• Hemihyperplasia-Multiple Lipomatosis Syndrome
• Tall stature-intellectual retardation-facial dysmorphic syndrome
• Congenital isolated hyperinsulinism
• Hypoinsulinaemic hypoglycemia - hemihypertrophy
• Klippel-Trénaunay-Weber syndrome
• Maffucci syndrome
• Marshall Smith Syndrome
• Megalencephaly Capillary Malformation Polymicrogyria Syndrome (MCAP) , synonyms: Megalencephaly Capillary Malformation Syndrome; Megalencephaly - Cutis Marmorata Telangiectatica Congenita; MCM; MCMTC; Macrocephaly - Cutis Marmorata Telangiectatica Congenita; Megalencephaly Capillary Malformation Syndrome
• Megalencephaly-severe kyphoscoliosis-tall stature syndrome
• Overgrowth Syndrome - Learning Disorders - Facial Dysmorphism
• Perlman syndrome
• Proteus Syndrome
• SOLAMEN syndrome
• Simpson-Golabi-Behmel Syndrome
• Simpson-Golabi-Behmel syndrome type 2
• Sotos syndrome
• Sturge Weber Syndrome
• Trisomy 11p15.4
• Weaver Syndrome

With "PIK3CA-related overgrowth spectrum" (PROS) is a subgroup of overgrowth syndromes is called, in which mutations in the PIK3CA - gene are present. In addition to the already mentioned megalencephaly-capillary malformations-polymicrogyria syndrome (MCAP) , these include:

• CLOVE syndrome
• Hemihyperplasia-Multiple Lipomatosis Syndrome
• Hemimegalencephaly
• Facial infiltrating lipomatosis

There is also the Ruvalcaba-Myhre-Smith syndrome in fetal stature, see fetal macrosomia .

More syndromes can be found under giant growth .

Individual evidence

1. ↑ Tall stature syndrome. In: Orphanet (Rare Disease Database).
2. ↑ Segmental progressive tall stature syndrome with fibroadipose hyperplasia. In: Orphanet (Rare Disease Database).
3. ↑ CLAPO syndrome. In: Orphanet (Rare Disease Database).
4. ^ Neuroectodermal melanolysosomal disease. In: Orphanet (Rare Disease Database).
5. ↑ General developmental retardation-lung cysts-tall Wilms tumor syndrome. In: Orphanet (Rare Disease Database).
6. ↑ Hemihyperplasia, isolated. In: Orphanet (Rare Disease Database).
7. ↑ Hemihyperplasia-Multiple Lipomatosis Syndrome. In: Orphanet (Rare Disease Database).
8. ↑ Tall stature-intellectual retardation-facial dysmorphic syndrome. In: Orphanet (Rare Disease Database).
9. ↑ Hyperinsulinism, isolated, congenital. In: Orphanet (Rare Disease Database).
10. ↑ Hypoinsulinaemic hypoglycemia - hemihypertrophy. In: Orphanet (Rare Disease Database).
11. ↑ Megalencephaly-capillary malformations-polymicrogyria syndrome. In: Orphanet (Rare Disease Database).
12. ↑ Megalencephaly-severe kyphoscoliosis-tall stature syndrome. In: Orphanet (Rare Disease Database).
13. ↑ Overgrowth Syndrome - Learning Disorders - Facial Dysmorphism. In: Orphanet (Rare Disease Database).
14. ^ Simpson-Golabi-Behmel syndrome type 2. In: Orphanet (database for rare diseases).
15. ↑ Microduplication Syndrome 11p15.4. In: Orphanet (Rare Disease Database).
16. ↑ PIK3CA.  In: Online Mendelian Inheritance in Man . (English)
17. ↑ HG Brunner, MA van Driel: From syndrome families to functional genomics. In: Nature Reviews Genetics . Volume 5, Number 7, July 2004, pp. 545-551, doi: 10.1038 / nrg1383 , PMID 15211356 (review).
18. ↑ KM Keppler-Noreuil, JJ Rios, VE Parker, RK Semple, MJ Lindhurst, JC Sapp, A. Alomari, M. Ezaki, W. Dobyns, LG Biesecker: PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria , differential diagnosis, and evaluation. In: American journal of medical genetics. Part A. Volume 167A, number 2, February 2015, pp. 287-295, doi: 10.1002 / ajmg.a.36836 , PMID 25557259 , PMC 4480633 (free full text).
19. ↑ Hemihyperplasia-Multiple Lipomatosis Syndrome. In: Orphanet (Rare Disease Database).
20. ↑ BL Padwa, JB Mulliken: Facial infiltrating lipomatosis. In: Plastic and reconstructive surgery. Volume 108, Number 6, November 2001, pp. 1544-1554, PMID 11711926 .
21. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !