Genitopatellar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
GTPTS
Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
Number of Symptoms 79
OrphanetNr: 85201
OMIM Id: 606170
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal dominant
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
Patellar dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0008694) Hypertrophic labia minora 2 / 7739
3
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
4
 (HPO:0000054) Micropenis 257 / 7739
5
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
6
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
7
 (HPO:0008665) Clitoral hypertrophy 10 / 7739
8
 (HPO:0000126) Hydronephrosis 119 / 7739
9
 (HPO:0000113) Polycystic kidney dysplasia Very frequent [Orphanet] 75 / 7739
10
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
11
 (HPO:0002209) Sparse scalp hair 59 / 7739
12
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
13
 (HPO:0000448) Prominent nose 56 / 7739
14
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
15
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
16
 (HPO:0000280) Coarse facial features 189 / 7739
17
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
18
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
21
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
22
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
23
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
24
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
25
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
26
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0002015) Dysphagia 301 / 7739
29
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
30
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
31
 (HPO:0006443) Patellar aplasia 14 / 7739
32
 (HPO:0003273) Hip contracture 30 / 7739
33
 (HPO:0002999) Patellar dislocation 46 / 7739
34
 (HPO:0009803) Short phalanx of finger 79 / 7739
35
 (HPO:0004684) Talipes valgus Frequent [Orphanet] 28 / 7739
36
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
37
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
38
 (HPO:0003175) Hypoplastic ischia 12 / 7739
39
 (HPO:0001762) Talipes equinovarus 309 / 7739
40
 (HPO:0005037) Proximal radio-ulnar synostosis 6 / 7739
41
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
42
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
43
 (HPO:0001374) Congenital hip dislocation 51 / 7739
44
 (HPO:0008823) Hypoplastic inferior pubic rami 1 / 7739
45
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] Very rare [HPO:skoehler] 52 / 7739
46
 (HPO:0003121) Limb joint contracture 8 / 7739
47
 (HPO:0006380) Knee flexion contracture 56 / 7739
48
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
49
 (HPO:0001561) Polyhydramnios 191 / 7739
50
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
51
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
52
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
53
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
54
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
55
 (HPO:0001629) Ventricular septal defect 316 / 7739
56
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
57
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
58
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
59
 (HPO:0001601) Laryngomalacia 61 / 7739
60
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
61
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
62
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
63
 (HPO:0001252) Muscular hypotonia 990 / 7739
64
 (HPO:0010547) Muscle flaccidity 466 / 7739
65
 (HPO:0001324) Muscle weakness 859 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
67
 (OMIM) Dimple overlying knee 1 / 7739
68
 (OMIM) Anteriorly positioned anus 2 / 7739
69
 (MedDRA:10072883) Brachydactyly 153 / 7739
70
 (OMIM) Colpocephaly 3 / 7739
71
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
72
 (OMIM) Hypoplastic perineum 1 / 7739
73
 (HPO:0012815) Hypoplastic female external genitalia Very frequent [Orphanet] 36 / 7739
74
 (HPO:0007165) Periventricular gray matter heterotopia 4 / 7739
75
 (OMIM) Hip flexion deformities 1 / 7739
76
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
77
 (OMIM) Hypoplasic scrotum 1 / 7739
78
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
79
 (HPO:0030048) Colpocephaly 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, ...
Clinical Description OMIM Cormier-Daire et al. (2000) reported the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in 6 boys and 1 girl belonging to 5 unrelated families. Flexion deformities of the knees and hips with ...
Molecular genetics OMIM Campeau et al. (2012) performed whole-exome sequencing in 3 patients with genitopatellar syndrome, including 1 patient ('patient 2') previously reported by Abdul-Rahman et al. (2006) and 1 patient previously reported by Lifchez et al. (2003), and identified heterozygosity ...