Encephalocraniocutaneous lipomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: ECCL
Haberland syndrome
Number of Symptoms 86
OrphanetNr: 2396
OMIM Id: 613001
ICD-10: E88.2
UMLs: C0406612
MeSH: C535736
MedDRA:
Snomed: 238905009

Prevalence, inheritance and age of onset:

Prevalence: 45 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin tumor
 -Rare genetic disease
Genetic subcutaneous tissue disease
 -Rare genetic disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
2
 (HPO:0001140) Epibulbar dermoid 11 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000593) Abnormality of the anterior chamber 15 / 7739
5
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
6
 (HPO:0000647) Sclerocornea 25 / 7739
7
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
8
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
9
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
10
 (HPO:0000625) Cleft eyelid 31 / 7739
11
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
12
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
13
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
14
 (HPO:0001631) Atria septal defect 274 / 7739
15
 (HPO:0001682) Subaortic stenosis 17 / 7739
16
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
17
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
18
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
19
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
20
 (HPO:0001680) Coarctation of aorta 57 / 7739
21
 (HPO:0005113) Dilatation of the aortic arch 12 / 7739
22
 (HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
23
 (HPO:0012032) Lipoma 10 / 7739
24
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
25
 (HPO:0100251) Lipomas of the central neryous system 1 / 7739
26
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
27
 (HPO:0100702) Arachnoid cyst 15 / 7739
28
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
29
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
30
 (HPO:0001263) Global developmental delay 853 / 7739
31
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
32
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
33
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
34
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
35
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
36
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
37
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
38
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
39
 (HPO:0012062) Bone cyst Frequent [Orphanet] 19 / 7739
40
 (HPO:0002797) Osteolysis Frequent [Orphanet] 68 / 7739
41
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
42
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
43
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
44
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
45
 (HPO:0000028) Cryptorchidism 347 / 7739
46
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
47
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
48
 (HPO:0007546) Linear hyperpigmentation 2 / 7739
49
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
50
 (HPO:0100761) Visceral angiomatosis Frequent [Orphanet] 21 / 7739
51
 (HPO:0000125) Pelvic kidney 10 / 7739
52
 (HPO:0000126) Hydronephrosis 119 / 7739
53
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
54
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
55
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
56
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
57
 (HPO:0002539) Cortical dysplasia 19 / 7739
58
 (HPO:0000238) Hydrocephalus 278 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
60
 (HPO:0002132) Porencephaly 18 / 7739
61
 (MedDRA:10072288) Intracranial lipoma 1 / 7739
62
 (OMIM) Abnormal cerebral vessels 1 / 7739
63
 (OMIM) Absent macular reflex 1 / 7739
64
 (OMIM) Adipose tissue in subarachnoid space 1 / 7739
65
 (OMIM) Atrophy, thin hemisphere 1 / 7739
66
 (OMIM) Bicommissural aortic valve 5 / 7739
67
 (OMIM) Calcifications 3 / 7739
68
 (OMIM) Defective opercularization 1 / 7739
69
 (OMIM) Ear abnormalities 1 / 7739
70
 (OMIM) Enlarged cerebellar cistern 1 / 7739
71
 (OMIM) Epilepsy, refractory (onset in adolescence or young adulthood) 3 / 7739
72
 (OMIM) Extensive melanosis of leptomeninges, amygdala, and cerebellar hemispheres 1 / 7739
73
 (OMIM) Focal scalp defects with alopecia 1 / 7739
74
 (OMIM) Focal skin hypoplasia in face 1 / 7739
75
 (OMIM) Hypertrophic conjunctivae 1 / 7739
76
 (OMIM) Hypoplasia thoracic aorta 1 / 7739
77
 (OMIM) Irregular eyebrows 1 / 7739
78
 (OMIM) Leg asymmetry 1 / 7739
79
 (OMIM) Meningeal angiomatosis 1 / 7739
80
 (OMIM) Short/abnormal palpebral fissure 1 / 7739
81
 (OMIM) Skeletal cysts 1 / 7739
82
 (OMIM) Small nodular skin-tags 1 / 7739
83
 (OMIM) Small pupil 4 / 7739
84
 (OMIM) Spinal lipoma 1 / 7739
85
 (OMIM) Subcutaneous lipomatous tissue 1 / 7739
86
 (OMIM) Turricephalic skull 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies (Moog et al., 2007).
Diagnosis OMIM - Differential Diagnosis

Wiedemann and Burgio (1986) reviewed cases of ECCL and concluded that the disorder is a variant of Proteus syndrome (176920). Dean and Cole (1988) also raised this possibility. On the other hand, McCall ...
Clinical Description OMIM Encephalocraniocutaneous lipomatosis was first described by Haberland and Perou (1970) as a new example of ectomesodermal dysgenesis characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation and calcification, ...