Endocrine-cerebro-osteodysplasia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ECO
ECO syndrome
Number of Symptoms 42
OrphanetNr: 199332
OMIM Id: 612651
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with limb and face anomalies as a major feature
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
2
 (HPO:0000062) Ambiguous genitalia 74 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000047) Hypospadias 250 / 7739
5
 (HPO:0000054) Micropenis 257 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000175) Cleft palate 349 / 7739
8
 (HPO:0000204) Cleft upper lip 193 / 7739
9
 (HPO:0000437) Depressed nasal tip 17 / 7739
10
 (HPO:0011800) Midface retrusion 221 / 7739
11
 (HPO:0000431) Wide nasal bridge 290 / 7739
12
 (HPO:0000272) Malar flattening 277 / 7739
13
 (HPO:0000369) Low-set ears 372 / 7739
14
 (HPO:0000377) Abnormality of the pinna 111 / 7739
15
 (HPO:0006610) Wide intermamillary distance 46 / 7739
16
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
17
 (HPO:0001159) Syndactyly 140 / 7739
18
 (HPO:0001852) Sandal gap 63 / 7739
19
 (HPO:0100259) Postaxial polydactyly 85 / 7739
20
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
21
 (HPO:0002983) Micromelia 130 / 7739
22
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
23
 (HPO:0000914) Shield chest 14 / 7739
24
 (HPO:0001552) Barrel-shaped chest 31 / 7739
25
 (OMIM) Fused eyelids 2 / 7739
26
 (HPO:0002119) Ventriculomegaly 253 / 7739
27
 (HPO:0030260) Microphallus 6 / 7739
28
 (OMIM) Pituitary agenesis 3 / 7739
29
 (OMIM) Cortical malformation 2 / 7739
30
 (OMIM) Dilated cystic tubules 1 / 7739
31
 (HPO:0000238) Hydrocephalus 278 / 7739
32
 (OMIM) Small, sunken eyes 1 / 7739
33
 (MedDRA:10072883) Brachydactyly 153 / 7739
34
 (OMIM) Unfused urogenital folds 1 / 7739
35
 (OMIM) Widened proximal metaphyses of the femur and tibia 1 / 7739
36
 (OMIM) Hypoplastic pituitary gland 1 / 7739
37
 (OMIM) Shortened upper limbs 1 / 7739
38
 (OMIM) Hip abduction 1 / 7739
39
 (OMIM) Bowing of the forearms 1 / 7739
40
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (HPO:0001360) Holoprosencephaly 29 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lahiry et al. (2009) reported 6 affected infants from 2 families in the Old Order Amish community with a syndrome comprising endocrine, cerebral, and skeletal abnormalities. One infant died on day 3 of life, another during birth, and ...
Molecular genetics OMIM In affected members of Old Order Amish families with ECO, Lahiry et al. (2009) identified a homozygous mutation in the ICK gene (612325.0001).