PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY

General Information (adopted from Orphanet):

Synonyms, Signs: PIERPONT SYNDROME
Number of Symptoms 63
OrphanetNr:
OMIM Id: 602342
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
2
(HPO:0000348) High forehead 157 / 7739
3
(HPO:0007946) Unilateral narrow palpebral fissure 3 / 7739
4
(HPO:0000687) Widely spaced teeth 40 / 7739
5
(HPO:0000293) Full cheeks 85 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0000445) Wide nose 190 / 7739
8
(HPO:0003196) Short nose 264 / 7739
9
(HPO:0000316) Hypertelorism 644 / 7739
10
(HPO:0002708) Prominent median palatal raphe rare [HPO:skoehler] 4 / 7739
11
(HPO:0000319) Smooth philtrum 72 / 7739
12
(HPO:0000232) Everted lower lip vermilion 90 / 7739
13
(HPO:0000470) Short neck 345 / 7739
14
(HPO:0000490) Deeply set eye 131 / 7739
15
(HPO:0000506) Telecanthus 156 / 7739
16
(HPO:0011800) Midface retrusion 221 / 7739
17
(HPO:0011341) Long upper lip 5 / 7739
18
(HPO:0009890) High anterior hairline 10 / 7739
19
(HPO:0000289) Broad philtrum 11 / 7739
20
(HPO:0000252) Microcephaly 832 / 7739
21
(HPO:0000272) Malar flattening 277 / 7739
22
(HPO:0000283) Broad face 12 / 7739
23
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
24
(HPO:0000358) Posteriorly rotated ears 163 / 7739
25
(HPO:0002265) Large fleshy ears 5 / 7739
26
(HPO:0001276) Hypertonia rare [HPO:skoehler] 317 / 7739
27
(HPO:0001263) Global developmental delay 853 / 7739
28
(HPO:0001327) Photomyoclonic seizures 125 / 7739
29
(HPO:0000750) Delayed speech and language development 197 / 7739
30
(HPO:0000759) Abnormal peripheral nervous system morphology 4 / 7739
31
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
32
(HPO:0100853) Hypoplastic areola 3 / 7739
33
(HPO:0006610) Wide intermamillary distance 46 / 7739
34
(HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
35
(HPO:0001769) Broad foot 31 / 7739
36
(HPO:0001169) Broad palm 43 / 7739
37
(HPO:0001773) Short foot 86 / 7739
38
(HPO:0006191) Deep palmar crease 16 / 7739
39
(HPO:0004279) Short palm 323 / 7739
40
(HPO:0011968) Feeding difficulties rare [HPO:skoehler] 240 / 7739
41
(HPO:0001510) Growth delay 295 / 7739
42
(HPO:0001508) Failure to thrive rare [HPO:skoehler] 454 / 7739
43
(HPO:0004322) Short stature 1232 / 7739
44
(HPO:0001869) Deep plantar creases 14 / 7739
45
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
46
(OMIM) Broad and short nose 4 / 7739
47
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
48
(OMIM) Progressive scoliosis 6 / 7739
49
(OMIM) Central palatal ridge (in some patients) 1 / 7739
50
(OMIM) Fetal toe pads 1 / 7739
51
(OMIM) Deep creases on palms, with pillowing in between 1 / 7739
52
(OMIM) Short and narrow palpebral fissures 1 / 7739
53
(OMIM) Hypertelorism or telecanthus 1 / 7739
54
(OMIM) Broad, short feet 8 / 7739
55
(OMIM) Less than fiftieth centile 1 / 7739
56
(OMIM) Fleshy ears 3 / 7739
57
(OMIM) Deep grooves on soles, with pillowing in between 1 / 7739
58
(OMIM) Broad, flat philtrum 1 / 7739
59
(OMIM) Less than tenth centile 1 / 7739
60
(OMIM) Fat pads anterior to calcanei 1 / 7739
61
(OMIM) Broad, short hands 14 / 7739
62
(OMIM) Long upper lip with thin vermilion border 1 / 7739
63
(OMIM) Fetal finger pads 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).
Clinical Description OMIM Pierpont et al. (1998) suggested that 2 unrelated boys suffered from a previously undescribed disorder characterized by global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, ...