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Femoral hypoplasia - unusual facies syndrome(FFS)

MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Synonyms: Femoral dysgenesis, bilateral; Femoral facial syndrome; FFS
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
SNOMED CT: Femoral hypoplasia - unusual facies syndrome (13280000)
 
OMIM: 134780

Definition

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 without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010). [from OMIM]

Clinical features

Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
Abnormally small `penis` (FMA:9707). At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypoplastic labia majora
MedGen UID:
500881
Concept ID:
CN000059
Finding
Undergrowth of the outer labia.
Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Abnormality of the renal collecting system
MedGen UID:
428102
Concept ID:
CN004193
Finding
An abnormality of the `renal collecting system` (FMA:265239).
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the `kidney` (FMA:7203).
Thin upper lip vermilion
MedGen UID:
507078
Concept ID:
CN000212
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Smooth philtrum
MedGen UID:
500885
Concept ID:
CN000299
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Underdeveloped nasal alae
MedGen UID:
507330
Concept ID:
CN000403
Finding
Thinned, deficient, or excessively arched `ala nasi` (FMA:59519).
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the `pinna` (FMA:56580), which is also referred to as the auricle or external ear.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Maternal diabetes
MedGen UID:
506326
Concept ID:
CN008658
Finding
Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the `rib` (FMA:7574).
Rib fusion
MedGen UID:
504648
Concept ID:
CN000846
Finding
Complete or partial merging of adjacent ribs.
Sprengel anomaly
MedGen UID:
504649
Concept ID:
CN000854
Finding
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Talipes
MedGen UID:
504986
Concept ID:
CN001703
Finding
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of the femur
MedGen UID:
446457
Concept ID:
CN002549
Finding
Abnormality of the `femur` (FMA:9611).
Hemivertebrae
MedGen UID:
505412
Concept ID:
CN002658
Finding
Absence of one half of the vertebral body.
Radioulnar synostosis
MedGen UID:
505426
Concept ID:
CN002691
Finding
An abnormal osseous union (fusion) between the radius and the ulna.
Abnormality of the tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the `hip bone` (FMA:16585).
Short third metatarsal
MedGen UID:
500978
Concept ID:
CN004149
Finding
Underdevelopment of the `Third metatarsal bone` (FMA:24504) leading to a short (hypoplastic) `third metatarsal bone` (FMA:24504).
Short fifth metatarsal
MedGen UID:
500980
Concept ID:
CN004163
Finding
Short (hypoplastic) `fifth metatarsal bone` (FMA:24506).
Abnormality of the sacrum
MedGen UID:
425311
Concept ID:
CN004532
Finding
An abnormality of the `sacral bone` (FMA:16202).
Aplasia/hypoplasia of the femur
MedGen UID:
428157
Concept ID:
CN004971
Finding
Absence or underdevelopment of the `femur` (FMA:9611).
Short humerus
MedGen UID:
428188
Concept ID:
CN005116
Finding
Underdevelopment of the humerus.
Maternal diabetes
MedGen UID:
506326
Concept ID:
CN008658
Finding
Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Hernia of the abdominal wall
MedGen UID:
428061
Concept ID:
CN003802
Finding
The presence of a hernia in the `abdominal wall` (FMA:259054).
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Truncus arteriosus
MedGen UID:
425066
Concept ID:
CN001511
Finding
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
Malformation of the heart and great vessels
MedGen UID:
428300
Concept ID:
CN002327
Finding
Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava).
Maternal diabetes
MedGen UID:
506326
Concept ID:
CN008658
Finding
Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Inguinal hernia
MedGen UID:
504305
Concept ID:
CN000024
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hernia of the abdominal wall
MedGen UID:
428061
Concept ID:
CN003802
Finding
The presence of a hernia in the `abdominal wall` (FMA:259054).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFemoral hypoplasia - unusual facies syndrome

Recent clinical studies

Etiology

Alao MJ, Gbénou S, Yèkpè P, Laleye A
Genet Couns 2011;22(4):365-70. PMID: 22303796
Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. PMID: 12504316

Diagnosis

Gupta P, Khatri PC, Agarwal R, Gupta P
Indian J Pediatr 2012 Nov;79(11):1517-9. Epub 2012 Mar 1 doi: 10.1007/s12098-011-0650-3. [Epub ahead of print] PMID: 22382510
Alao MJ, Gbénou S, Yèkpè P, Laleye A
Genet Couns 2011;22(4):365-70. PMID: 22303796
Figueroa C, Plasencia W, Eguiluz I, De Luis M, Barber MA, Valle L, García-Hernández JA
J Matern Fetal Neonatal Med 2009 Oct;22(10):936-9. doi: 10.1080/14767050902994606. PMID: 19488946
Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, Martinelli P
Ultrasound Obstet Gynecol 2007 Sep;30(3):354-8. doi: 10.1002/uog.4080. PMID: 17668891
Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J
J Med Genet 1984 Oct;21(5):331-40. PMID: 6502648Free PMC Article

Prognosis

Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. PMID: 12504316
Giacoia GP, Tunnessen WW Jr
Arch Pediatr Adolesc Med 1996 Jul;150(7):761-2. PMID: 8673205

Clinical prediction guides

Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Núñez P
Clin Imaging 2003 Jan-Feb;27(1):23-6. PMID: 12504316
Tadmor OP, Hammerman C, Rabinowitz R, Fisher D, Itzchaki M, Aboulafia Y, Diamant YZ
Fetal Diagn Ther 1993 Jul-Aug;8(4):279-84. PMID: 7903145
Johnson JP, Fineman RM
Am J Med Genet 1982 Oct;13(2):125-30. doi: 10.1002/ajmg.1320130204. PMID: 6753584
Gleiser S, Weaver DD, Escobar V, Nichols G, Escobedo M
Eur J Pediatr 1978 May 22;128(1):1-5. PMID: 668714

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