Al Awadi syndrome

Synonyms

9

Overview

A syndrome characterised by limb defects due to hypo- or aplasia of one or more long bones; pelvic defects with hip dislocation, hypoplastic iliac bone and aplastic pubic bones; and variable thoracic deformity, unusual facies and genitourinary anomalies.  The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.

Symptoms

  • Intercalary limb deficiencies
  • Phocomelia
  • Cleft hand
  • Absent pelvic bones
  • Underdeveloped pelvic bones
  • Missing fingers
  • Missing toes
  • Underdeveloped feet
  • Missing nails
  • Mullerial aplasia
  • Small ears
  • Abnormal uterus development
  • Abnormal vagina development
  • Small penis
  • Undescended testes
  • Sacral agenesis
  • Underdeveloped sacrum
  • Skull defects
  • Meningocele
  • Occipital skull bone defect
  • Thoracic dystrophy
  • Unusual facial appearance
  • High arched palate
  • Broad nose bridge
  • Short broad neck
  • Prominent chest
  • Underdeveloped nipples
  • Broad ribs
  • Extra fingers
  • Narrow palate
  • Genital malformations
  • Hypospadias
  • Underdeveloped scrotum
  • Absent forearm bones
  • Poor skull calcification
  • Hip dislocation
  • Short stature
  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the fibula
  • Abnormality of the fingernails
  • Abnormality of the tibia
  • Abnormality of the ulna
  • Absent ulna
  • Aplasia/hypoplasia of the femur
  • Bowing of the long bones
  • Fibular aplasia
  • Foot oligodactyly
  • Hand oligodactyly
  • Micromelia
  • Short foot
  • Short stature
  • Split foot
  • Split hand

Causes

The exact type and severity of symptoms is variable.
  • Pregnancy-related –Ectopic pregnancy –Threatened abortion –Incomplete abortion –Septic abortion –Ruptured corpus luteal cyst
  • Gynecologic (noncyclic) –Ovarian cyst –Pelvic inflammatory disease –Tubo-ovarian abscess –Vaginitis/cervicitis –Ovarian torsion –Uterine fibroids –Pelvic (ovarian, uterine, urinary) neoplasm –Pelvic floor prolapse (cystocele/rectocele)
  • Gynecologic (cyclic pain) –Primary dysmenorrhea –Endometriosis –IUD –Mittelschmerz (midcycle ovulation)
  • Nongynecologic –Irritable bowel syndrome –UTI/pyelonephritis –Nephrolithiasis –Appendicitis –Diverticulitis –Sexual abuse/trauma –Abdominal aortic aneurysm –Mesenteric ischemia/infarction

Diagnosis

  • Is there a pelvic mass? The presence of a pelvic mass would suggest salpingo-oophoritis, ectopic pregnancy, endometriosis, uterine fibroid, or an ovarian tumor that is twisting on its pedicle.
  • Is there fever or purulent vaginal discharge? The presence of fever or purulent vaginal discharge would suggest PID, diverticulitis, and appendicitis.
  • Is there a history of metrorrhagia or menorrhagia? The history of metrorrhagia or menorrhagia would suggest ectopic pregnancy, threatened abortion, retained secundinae, uterine fibroids, and endometriosis.
  • Is there a positive pregnancy test? The presence of a positive pregnancy test would suggest an ectopic pregnancy or threatened abortion.
  • Is the pain related to the menstrual cycle? If the pain is related to the menstrual cycle, mittelschmerz should be considered.

Treatment

  • Primary dysmenorrhea: NSAIDs; consider oral contraceptives to suppress ovulation in severe disease
  • Positive pregnancy test: Determine last menstrual period; obtain quantitative β-hCG; confirm intrauterine pregnancy
  • In patients at high risk for STDs, treat empirically for PID (to cover gonorrhea and Chlamydia) –Ofloxacin 400 mg PO BID for 14 days plus metronidazole 500 mg PO BID for 14 days, or –Ceftriaxone 250 mg IM single dose plus doxycycline 100 mg PO BID for 14 days
  • Endometriosis: Treat with hormonal medications or surgical laparoscopy –Oral contraceptives for 3–4 months, or –Provera 39 mg QD for 2 months, or –Danazol 200–800 mg QD for 6 months, or –GnRH agonist (e.g., leuprolide)

Resources

  • NIH