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Femoral hypoplasia |
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Synonyms |
| Femoral-facial syndrome |
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| Clinical |
Characterisitc facies with high forehead, short
nose with broad tip, long philtrum, thin upper lip, micrognathia,
cleft palate, micromia, deformed pinnae. Hypoplastic femur with
variable lower limb shortening; hypoplastic fibulae frequent. Preaxial
polydactyly of toes described (Baraitser). Upper limbs affected
in some cases (hypoplastic humerus, radio-ulnar synostosis). Reported
with Rokitansky sequence (Bau) & with severe caudal defects
(Riedel). Severe manifestations with early lethality, vertebral
& genitourinary anomalies have been reported (Urban, Johnson),
particularly in association with maternal diabetes. One severe case
had additional features of heterotopia of brain (Gillerot). |
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Differential diagnosis |
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Distinguish from Femur-fibula-ulna syndrome which
presents with upper limb anomalies and normal facies, and Absence deformity
of one leg, congenital cataracts on associated features.
Compare Lethal chondrodypsalia punctata, unilateral absence of femur. |
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Radiology |
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Short or absent femora, frequently short or absent
fibulae, oligodactyly, clubfeet. Hypoplastic iliac bodies with abnormally
developed acetabulae. Occasional fusion or absence of lower vertebral
bodies. |
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Genetics |
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Autosomal dominant reported in some cases (Robinow) |
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Warning |
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We have found the traits listed below useful for matching this diagnosis.
The traits are not intended to define this syndrome. |
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Traits |
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Autosomal dominant
Other exogenous cause / disruption
Other cause
Small for gestational age (IUGR)
Asymmetry of the body / hemihypertrophy / hemiatrophy
Short stature - prenatal / intrauterine dwarfism
Short stature - postnatal
Short limbs
Skin dimples
Pointed chin
Depressed nasal bridge
Cleft nose / bifid tip
Thin lips
Long philtrum
Low set ears
Anteverted / prominent / bat ears
Sprengel anomaly
Inguinal hernia
Scoliosis
Limb deficiency - ray |
Bony restriction of joint anomaly
Contractures of large joints (soft tissue)
Syndactyly of fingers
Talipes
Hypoplastic lungs
Tracheal abnormality
Agenesis / hypoplasia of kidneys
Ureteric abnormalities (reflux / hydronephrosis)
Small penis
Markedly asymmetric involvement
Halberd-shaped ilia / crescent-shaped iliac wings
Irregular / abnormal acetabular roof
Irregular shape of pubic and ischial bones
Other sacrum / pelvis
Dislocated hip
Absent / normal humerus
Radio-ulnar synostosis
Humero-radial fusion
Sirenomelia / hypoplastic lower limbs
Tibiae, fibulae absent |
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