Hennekam syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LYMPHATIC DYSPLASIA, GENERALIZED
Lymphedema - lymphangiectasia - intellectual deficit
Number of Symptoms 108
OrphanetNr: 2136
OMIM Id: 235510
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000086) Ectopic kidney 29 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
4
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000085) Horseshoe kidney 39 / 7739
7
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
8
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
9
 (HPO:0100539) Periorbital edema 8 / 7739
10
 (HPO:0011065) Conical incisor 5 / 7739
11
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
12
 (HPO:0011069) Increased number of teeth Very frequent [Orphanet] 39 / 7739
13
 (HPO:0000278) Retrognathia 100 / 7739
14
 (HPO:0000189) Narrow palate 45 / 7739
15
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
16
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
17
 (HPO:0000272) Malar flattening 277 / 7739
18
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
19
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
20
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
21
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
22
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
23
 (HPO:0000431) Wide nasal bridge 290 / 7739
24
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
25
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
26
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
27
 (HPO:0000212) Gingival overgrowth 43 / 7739
28
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
29
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
30
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
31
 (HPO:0000319) Smooth philtrum 72 / 7739
32
 (HPO:0000677) Oligodontia 41 / 7739
33
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
34
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
35
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
36
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
37
 (HPO:0000369) Low-set ears 372 / 7739
38
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
39
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
40
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
41
 (HPO:0100835) Benign neoplasm of the central nervous system Occasional [Orphanet] 12 / 7739
42
 (HPO:0000752) Hyperactivity 140 / 7739
43
 (HPO:0001249) Intellectual disability 1089 / 7739
44
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
45
 (HPO:0008229) Thyroid lymphangiectasia 2 / 7739
46
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
47
 (HPO:0012385) Camptodactyly 113 / 7739
48
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
49
 (HPO:0200055) Small hand 71 / 7739
50
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
51
 (HPO:0000767) Pectus excavatum 244 / 7739
52
 (HPO:0001773) Short foot 86 / 7739
53
 (HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
54
 (HPO:0001762) Talipes equinovarus 309 / 7739
55
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
56
 (HPO:0002650) Scoliosis 705 / 7739
57
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
58
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
59
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
60
 (HPO:0004279) Short palm 323 / 7739
61
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
62
 (HPO:0003298) Spina bifida occulta 67 / 7739
63
 (HPO:0009473) Joint contracture of the hand 84 / 7739
64
 (HPO:0001789) Hydrops fetalis Occasional [Orphanet] 63 / 7739
65
 (HPO:0002243) Protein-losing enteropathy 8 / 7739
66
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
67
 (HPO:0001541) Ascites Frequent [Orphanet] 94 / 7739
68
 (HPO:0001537) Umbilical hernia 206 / 7739
69
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
70
 (HPO:0002035) Rectal prolapse 11 / 7739
71
 (HPO:0002593) Intestinal lymphangiectasia 6 / 7739
72
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
73
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
74
 (HPO:0001530) Mild postnatal growth retardation 7 / 7739
75
 (HPO:0001007) Hirsutism 91 / 7739
76
 (HPO:0001055) Erysipelas Frequent [Orphanet] 6 / 7739
77
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
78
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
79
 (HPO:0001698) Pericardial effusion 20 / 7739
80
 (HPO:0001629) Ventricular septal defect 316 / 7739
81
 (HPO:0005183) Pericardial lymphangiectasia 2 / 7739
82
 (HPO:0001631) Atria septal defect 274 / 7739
83
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
84
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
85
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
86
 (HPO:0002901) Hypocalcemia Occasional [Orphanet] 56 / 7739
87
 (HPO:0003073) Hypoalbuminemia 40 / 7739
88
 (HPO:0002202) Pleural effusion 22 / 7739
89
 (HPO:0006531) Pleural lymphangiectasia 1 / 7739
90
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
91
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
92
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
93
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
94
 (HPO:0100764) Lymphangioma Very frequent [Orphanet] 11 / 7739
95
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
96
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
97
 (OMIM) Lymphedematous facies 1 / 7739
98
 (HPO:0001302) Pachygyria 60 / 7739
99
 (OMIM) Growth retardation, mild 2 / 7739
100
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
101
 (OMIM) Duplicated ureter 2 / 7739
102
 (OMIM) Hypoglobulinemia 1 / 7739
103
 (OMIM) Bilateral single palmar creases 1 / 7739
104
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
105
 (OMIM) Renal lymphangiectasia 1 / 7739
106
 (OMIM) Horizontal clavicles 1 / 7739
107
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
108
 (OMIM) Focal parietal pachygyria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hennekam et al. (1989) described a syndrome of intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia, and face, and severe mental retardation. Intestinal lymphangiectasia was accompanied by the usual hypoproteinemia, hypogammaglobulinemia, and lymphocytopenia. Facial anomalies included flat ...
Molecular genetics OMIM In 5 affected individuals from consanguineous families with Hennekam syndrome, including 3 patients from a Dutch pedigree, 1 Omani patient, and 1 Iraqi patient, Alders et al. (2009) sequenced the candidate gene CCBE1 (612753) and identified homozygosity for ...