Femoral-facial syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME
FFS
FHUFS
Femoral hypoplasia - unusual facies syndrome
Number of Symptoms 83
OrphanetNr: 1988
OMIM Id: 134780
ICD-10: Q87.8
UMLs:
MeSH: C537916
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0004742) Abnormality of the renal collecting system 4 / 7739
3
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
4
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
5
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
6
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
7
 (HPO:0000054) Micropenis 257 / 7739
8
 (HPO:0000104) Renal agenesis 68 / 7739
9
 (HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
10
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
15
 (HPO:0000319) Smooth philtrum 72 / 7739
16
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
17
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
18
 (HPO:0001999) Abnormal facial shape 169 / 7739
19
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
20
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
21
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
22
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
23
 (HPO:0000347) Micrognathia 426 / 7739
24
 (HPO:0000565) Esotropia 58 / 7739
25
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
26
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
27
 (HPO:0000377) Abnormality of the pinna 111 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
30
 (HPO:0009800) Maternal diabetes Frequent [Orphanet] frequent [HPO:skoehler] 14 / 7739
31
 (HPO:0001770) Toe syndactyly 149 / 7739
32
 (HPO:0003274) Hypoplastic acetabulae 7 / 7739
33
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
34
 (HPO:0002996) Limited elbow movement 16 / 7739
35
 (HPO:0002991) Abnormality of the fibula Frequent [Orphanet] 49 / 7739
36
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
37
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
38
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
39
 (HPO:0005107) Abnormality of the sacrum Frequent [Orphanet] 18 / 7739
40
 (HPO:0002937) Hemivertebrae 41 / 7739
41
 (HPO:0000902) Rib fusion 19 / 7739
42
 (HPO:0000921) Missing ribs 62 / 7739
43
 (HPO:0005792) Short humerus 34 / 7739
44
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
45
 (HPO:0006467) Limited shoulder movement 3 / 7739
46
 (HPO:0100258) Preaxial polydactyly 39 / 7739
47
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
48
 (HPO:0004686) Short third metatarsal 9 / 7739
49
 (HPO:0005613) Aplasia/hypoplasia of the femur 5 / 7739
50
 (HPO:0004689) Short fourth metatarsal 9 / 7739
51
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
52
 (HPO:0008455) Dysplastic sacrum 2 / 7739
53
 (HPO:0003041) Humeroradial synostosis 19 / 7739
54
 (HPO:0004704) Short fifth metatarsal 3 / 7739
55
 (HPO:0001841) Preaxial foot polydactyly Frequent [Orphanet] 24 / 7739
56
 (HPO:0008905) Rhizomelia Frequent [Orphanet] 85 / 7739
57
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
58
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
59
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
60
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
61
 (HPO:0008465) Absent vertebrae 1 / 7739
62
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
63
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
64
 (HPO:0000023) Inguinal hernia 181 / 7739
65
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
66
 (HPO:0001660) Truncus arteriosus 21 / 7739
67
 (HPO:0001629) Ventricular septal defect 316 / 7739
68
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
69
 (HPO:0001642) Pulmonic stenosis 89 / 7739
70
 (OMIM) Large obturator foramina 1 / 7739
71
 (OMIM) Vertical ischial axis 1 / 7739
72
 (OMIM) Short thighs 1 / 7739
73
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
74
 (OMIM) Variable fibular involvement 1 / 7739
75
 (OMIM) Variable humeri hypoplasia 1 / 7739
76
 (OMIM) Constricted iliac base 1 / 7739
77
 (OMIM) Normal intelligence 81 / 7739
78
 (OMIM) Bilateral, often asymmetric involvement of femora 1 / 7739
79
 (OMIM) Poorly formed pinnae 1 / 7739
80
 (OMIM) Radiohumeral synostosis 3 / 7739
81
 (OMIM) Short third, fourth, fifth metatarsals 1 / 7739
82
 (HPO:0003745) Sporadic 131 / 7739
83
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or ...
Diagnosis OMIM - Prenatal Diagnosis

Robinow et al. (1995) reported this syndrome in 4 generations with one presumed instance of male-to-male transmission. Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. In the proband, ...
Clinical Description OMIM Daentl et al. (1975) first called attention to a characteristic syndrome of femoral hypoplasia and unusual facies. The facial features include upslanting palpebral fissures, short nose with broad tip, long philtrum, thin upper lip, micrognathia, and cleft palate. ...