|
Hyperphosphatasia
|
26/26
|
14/14, ND in 2
|
6/6, ND in 6
|
25/26
|
1/3
|
4/4
|
|
Growth parameters
|
|
OFC
|
Normal in 22/26 (microcephaly in 2/26, macrocephaly in 2/26)
|
Normal in 2/6 (microcephaly in 4, macrocephaly in 2, ND in 8)
|
Normal in 5/12 (microcephaly in 7)
|
Normal in 17/26 (microcephaly in 7, macrocephaly in 2)
|
Normal in 2 (ND in 1)
|
Normal in 2/4 (microcephaly in 2)
|
|
Height
|
Normal in 24/26
|
Normal in 3/5 (short stature in 2, ND in 11)
|
Normal in 2/2, ND in 10
|
Normal in 25/26 (short stature in 1/26)
|
Normal in 2 (ND in 1)
|
Normal in 2/4 (short stature in 2/4)
|
|
Weight
|
Normal in 24/26
|
Normal in 4/5 (dystrophy in 1, ND in 11)
|
Normal in 2/2, ND in 10
|
Normal in 21/26 (overweight in 2/26, dystrophy in 3/26)
|
Normal in 2 (ND in 1)
|
ND
|
|
Neurological phenotype
|
|
Global developmental delay
|
26/26
|
16/16
|
2/2
|
26/26
|
3/3
|
4/4
|
|
Motor delay
|
26/26
|
16/16
|
12/12 (mild in 5)
|
26/26
|
3/3
|
4/4
|
|
Speech and language developmental delay
|
26/26 (no speech in 6/10)
|
16 (no speech in 5/16)
|
11/12
|
26/26 (no speech in 20/26)
|
3/3
|
4/4
|
|
Muscular hypotonia
|
18/24, ND in 2
|
11/11, ND in 5
|
5/6, ND in 6
|
23/26
|
2/2, ND in 1
|
ND
|
|
Seizures
|
20/26
|
11/12, ND in 4
|
8/12
|
17/26
|
Autistic traits 1/3
|
2/4
|
|
Behavioral abnormalities
|
ND
|
ND
|
ND
|
21/26
|
ND
|
2/4
|
|
Other neurological abnormalitites
|
Hearing loss
|
Hearing impairment (5/16), thin corpus callosum
|
Hearing impairment
|
Ataxia (10/26); no walking in 8/26
|
-
|
Regression of acquired skills (2/4)
|
| |
HPMRS1 (PIGV)
|
HPMRS2 (PIGO)
|
HPMRS3 (PGAP2)
|
HPMRS4 (PGAP3)
|
HPMRS5 (PIGW)
|
HPMRS6 (PIGY)
|
|
Malformations
|
|
Cleft palate
|
8/26
|
4/16
|
1/12
|
15/26
|
-
|
0/4
|
|
Megacolon
|
8/26
|
5/16
|
1/12
|
0/26
|
-
|
0/4
|
|
Anorectal malformations
|
9/26
|
3/16
|
1/12
|
0/26
|
-
|
0/4
|
|
Vesicoureteral/renal malformations
|
6/10
|
2/16
|
ND
|
0/26
|
-
|
1/4
|
|
Heart defect
|
5/26
|
2/16
|
2/12
|
2/26
|
-
|
0/4
|
|
Facial gestalt
|
|
Apparent hypertelorism
|
26/26
|
6/6, ND in 10
|
1/12
|
12/13, ND in 13
|
ND
|
1/4
|
|
Up-slanting palpebral fissure
|
26/26
|
10/11, ND in 5
|
ND in 12
|
2/26
|
ND
|
0/4
|
|
Broad nasal bridge
|
26/26
|
5/6, ND in 10
|
2/12
|
13/13, ND in 13
|
1/3 ND in 2
|
1/4
|
|
Broad nasal tip
|
26/26
|
5/6, ND in 10
|
1/12
|
4/14, ND in 12
|
ND
|
1/4
|
|
Short nose
|
26/26
|
5/6, ND in 10
|
1/12
|
14/24, ND in 2
|
ND
|
ND
|
|
Tented upper lip vermilion
|
26/26
|
7/8, ND in 8
|
2/12
|
17/24, ND in 21
|
3/3
|
ND
|
|
Large, fleshy ear lobes
|
-
|
1/16
| |
18/24, ND in 21
|
ND
|
4/4
|
|
Brachytelephalangy
|
26/26
|
10/10, ND in 6
|
0/12 (broad nails in 1/12)
|
0/26 (broad nails in 6/26)
|
-
|
1/4
|
|
Further anomalies (rare)
|
Gastroesophageal reflux, optic atrophy bilateral, scoliosis, hip subluxation (right), thin corpus callosum, gingiva hyperplasia
|
Coronal synostosis, keratoderma, micrognathia, auricular malformations
| |
Thin corpus callosum (9/26), ventriculomegaly (3/26), vermis hypoplasia (4/26)
|
Inguinal hernia (1/3)
|
Cataracts (2/4)
|
|
Rhizomelic shortness of limbs (2/4)
|
|
Contractures (2/4)
|
|
Hip dysplasia (2/4)
|
|
Published cases
|
Rabe et al. 1991 [33]
|
Krawitz et al. 2012 [7]
|
Hansen et al. 2013 [4]
|
Howard et al. 2014 [5]
|
Chiyonobu et al. 2014 [3]
|
Ilkovski et al. 2015 [6]
|
|
Marcelis et al. 2007 [34]
|
Kuki et al. 2013 [36]
|
Krawitz et al. 2013 [8]
|
Knaus et al. 2016 [19]
|
Hogrebe et al. 2016 [20]
|
|
Krawitz et al. 2010 [9] and Horn et al. 2010 [60]
|
Nakamura et al. 2014 [16]
|
Jezela-Stanek et al. 2016 [18]
|
Pagnamenta et al. 2017 [40]
|
|
Horn et al. 2011 [28]
|
Xue et al. 2016 [31]
|
Naseer et al. 2016 [38]
|
Nampoothiri et al. 2017 [41]
|
|
Thompson et al. 2012 [29]
|
Morren et al. 2017 [35]
|
Abdel-Hamid et al. 2017 [39]
|
|
Horn et al. 2014 [30]
|
Zehavi et al. 2017 [17]
|
2 unpublished cases
|
|
Xue et al. 2016 [31]
|
Tanigawa 2017 [37]
|
|
Reynolds et al. 2017 [32]
|
|
6 unpublished cases
|
