FCH
MCID: NCH001
MIFTS: 24

Nuchal Bleb, Familial (FCH)

Categories: Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Nuchal Bleb, Familial

MalaCards integrated aliases for Nuchal Bleb, Familial:

Name: Nuchal Bleb, Familial 57 75 53
Fch 57 53
Cystic Hygroma, Fetal; Fch 57
Cystic Hygroma, Fetal 57
Fetal Cystic Hygroma 53
Cystic Hygroma Fetal 53
Lymphangioma, Cystic 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
more often 45,x turner syndrome


HPO:

32
nuchal bleb, familial:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 257350
MedGen 42 C0948242
UMLS 72 C0206620

Summaries for Nuchal Bleb, Familial

NIH Rare Diseases : 53 Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.

MalaCards based summary : Nuchal Bleb, Familial, also known as fch, is related to turner syndrome and chromosomal triplication. Affiliated tissues include skin, uterus and breast, and related phenotypes are hydrops fetalis and fetal cystic hygroma

OMIM : 57 Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983). (257350)

Wikipedia : 75 A cystic hygroma is an abnormal growth that usually appears on a baby's neck or head. It consists of one... more...

Related Diseases for Nuchal Bleb, Familial

Diseases related to Nuchal Bleb, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 turner syndrome 10.4
2 chromosomal triplication 10.4
3 gonadal dysgenesis 10.3
4 lymphangiectasis 10.3
5 down syndrome 10.2
6 cystic lymphangioma 10.2
7 hyperlipidemia, familial combined, 3 10.2
8 prostate cancer 10.2
9 glioblastoma multiforme 10.2
10 adenoma 10.2
11 glioblastoma 10.2
12 patau syndrome 10.2
13 lymphangioma 10.2
14 rare lymphatic malformation 10.2
15 breast cancer 10.0
16 diabetes mellitus, noninsulin-dependent 10.0
17 retinoblastoma 10.0
18 chondrosarcoma 10.0
19 meningioma, radiation-induced 10.0
20 body mass index quantitative trait locus 1 10.0
21 meningioma, familial 10.0
22 pachyonychia congenita 3 10.0
23 diffuse large b-cell lymphoma 10.0
24 lymphoma 10.0
25 thyroid lymphoma 10.0
26 spinal meningioma 10.0
27 hyperparathyroidism 10.0
28 papillary carcinoma 10.0
29 lipid metabolism disorder 10.0
30 pituitary adenoma 10.0
31 secretory meningioma 10.0
32 lymphoplasmacyte-rich meningioma 10.0
33 familial retinoblastoma 10.0
34 liver cirrhosis 10.0
35 b-cell lymphoma 10.0
36 parathyroid adenoma 10.0
37 glioma 10.0
38 glial tumor 10.0
39 cleft palate, isolated 10.0
40 neural tube defects 10.0
41 gastroschisis 10.0
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
43 orofaciodigital syndrome viii 10.0
44 hydrops, lactic acidosis, and sideroblastic anemia 10.0
45 omphalocele 10.0
46 amenorrhea 10.0
47 47,xyy 10.0
48 amniotic band syndrome 10.0
49 aortic coarctation 10.0
50 fetal edema 10.0

Graphical network of the top 20 diseases related to Nuchal Bleb, Familial:



Diseases related to Nuchal Bleb, Familial

Symptoms & Phenotypes for Nuchal Bleb, Familial

Human phenotypes related to Nuchal Bleb, Familial:

32
# Description HPO Frequency HPO Source Accession
1 hydrops fetalis 32 HP:0001789
2 fetal cystic hygroma 32 HP:0010878

Symptoms via clinical synopsis from OMIM:

57
Neck:
fetal cystic hygroma
nuchal bleb

Lab:
normal karyotype
high amniotic fluid afp

Misc:
fetal hydrops
fetal death

Clinical features from OMIM:

257350

Drugs & Therapeutics for Nuchal Bleb, Familial

Search Clinical Trials , NIH Clinical Center for Nuchal Bleb, Familial

Genetic Tests for Nuchal Bleb, Familial

Anatomical Context for Nuchal Bleb, Familial

MalaCards organs/tissues related to Nuchal Bleb, Familial:

41
Skin, Uterus, Breast

Publications for Nuchal Bleb, Familial

Articles related to Nuchal Bleb, Familial:

(show all 35)
# Title Authors PMID Year
1
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany. 8
17167798 2007
2
Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype. 8
10546099 1999
3
Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families. 8
9415686 1997
4
Familial cystic hygroma with normal karyotype. 8
2179939 1990
5
Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes. 8
6209701 1984
6
Fetal cystic hygroma. Cause and natural history. 8
6888468 1983
7
Penile Lymphangioma: review of the literature with a case presentation. 38
30705756 2019
8
Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review. 38
29924669 2018
9
An adult case of lymphangioma of the hepatoduodenal ligament mimicking a hepatic cyst. 38
28050777 2017
10
Adult cystic lymphangioma in the inner quadrant of the breast-Rare location for a rare disease: A case report. 38
26852362 2016
11
Mediastinal cystic lymphangioma in a patient with situs inversus totalis. 38
25431732 2014
12
Cystic renal neoplasms and renal neoplasms associated with cystic renal diseases in adults: cross-sectional imaging findings. 38
23192202 2012
13
Head and neck lymphatic malformation treatment: a systematic review. 38
22785242 2012
14
Cystic adrenal lymphangioma--report of two cases and review of the literature. 38
23139985 2012
15
An unusual cause of acute abdomen in adults: giant cystic lymphangioma of the pancreatic head. A clinical case and literature review. 38
21546706 2011
16
Treatment of auricular hematoma by OK-432. 38
20493359 2010
17
[Macrocystic lymphatic lymphangioma (cystic lymphangioma) of the upper extremity: a case report]. 38
18667296 2008
18
Unilateral lower limb swelling secondary to cavernous lymphangioma. 38
17964823 2008
19
[Neonatal uro-haematoma secondary to posterior urethral valve]. 38
15822395 2005
20
Cystic lymphangioma confined to mediastinum in an adult. 38
15651402 2004
21
Lymphatic malformation of the sphenoid sinus in a pediatric patient. 38
15523467 2004
22
Thoracic cystic lymphangioma (cystic hygroma): a chest pain syndrome--a case report. 38
15378120 2004
23
[Gastrointestinal stromal tumor of the omentum: report of a case]. 38
14978967 2003
24
Treatment of ranula wth intracystic injection of the streptococcal preparation OK-432. 38
12656411 2003
25
[Tumors of the lymphatic vessel of the skin and soft tissue]. 38
12001527 2002
26
[Mesenteric cystic lymphangioma]. 38
10228459 1999
27
A new therapeutic concept for the treatment of cystic hygroma. 38
8705583 1996
28
Neoplastic and inflammatory processes of the peritoneum, omentum, and mesentery: diagnosis with CT. 38
1439011 1992
29
[A surgical case of mediastinal cystic lymphangioma]. 38
9308665 1989
30
Congenital cystic dilatation of the submandibular duct. 38
6594655 1984
31
Pathologic quiz Case 1: Parotid lymphangioma (cystic type). 38
7224956 1981
32
Multilocular renal cysts: radiologic-pathologic correlation. 38
6258408 1981
33
Mandibulo-facial aspects of the cervical cystic lymphangioma (cystic hygroma). 38
281243 1978
34
Fetal cystic lymphangioma (cystic hygroma): prepartum ultrasonic findings. 38
981626 1976
35
Lymphangioma (cystic hygroma) of the mediastinum. 38
5703367 1968

Variations for Nuchal Bleb, Familial

Expression for Nuchal Bleb, Familial

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Pathways for Nuchal Bleb, Familial

GO Terms for Nuchal Bleb, Familial

Sources for Nuchal Bleb, Familial

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73 UMLS via Orphanet
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