Splenogonadal fusion - limb defects - micrognathia

General Information (adopted from Orphanet):

Synonyms, Signs: SPLENOGONADAL FUSION LIMB DEFECT SYNDROME
SGFLD SYNDROME
Number of Symptoms 45
OrphanetNr: 2063
OMIM Id: 183300
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic visceral malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000119) Abnormality of the genitourinary system 34 / 7739
3
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
4
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
5
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
6
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
9
 (HPO:0006333) Crowded maxillary incisors 1 / 7739
10
 (HPO:0006283) Multiple unerupted teeth 1 / 7739
11
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
12
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
13
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
14
 (HPO:0010305) Absence of the sacrum Occasional [Orphanet] 17 / 7739
15
 (HPO:0100559) Lower limb asymmetry Frequent [Orphanet] 30 / 7739
16
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
17
 (HPO:0009827) Amelia 12 / 7739
18
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
19
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
20
 (HPO:0002815) Abnormality of the knee Very frequent [Orphanet] 19 / 7739
21
 (HPO:0009829) Phocomelia 20 / 7739
22
 (HPO:0002983) Micromelia 130 / 7739
23
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
24
 (HPO:0002817) Abnormality of the upper limb Frequent [Orphanet] 25 / 7739
25
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
26
 (HPO:0003027) Mesomelia 58 / 7739
27
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
28
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
29
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
30
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
31
 (HPO:0001743) Abnormality of the spleen Very frequent [Orphanet] 37 / 7739
32
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
33
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
34
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
35
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
36
 (OMIM) Fused spleen and gonad 1 / 7739
37
 (OMIM) Tetramelic limb deficiencies 1 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
40
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
41
 (OMIM) Deep, narrow, V-shaped palate 1 / 7739
42
 (OMIM) Terminal transverse hemimelia 2 / 7739
43
 (HPO:0003826) Stillbirth 40 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
45
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous ...
Clinical Description OMIM Putschar and Manion (1956) first proposed that fusion of the spleen and gonad with accompanying ectromelia was a specific entity. Hives and Eggum (1961) reported a ninth case. Seven were stillborn or died in infancy; the eighth died ...