Imperforate Anus – Newborn Baby Missing Anal Opening

Imperforate Anus is mentioned in association with:
22q11.2 deletion syndrome (del 22q11.2) / deletion of chromosome 22
Cat-eye syndrome / CES
Opitz BBB/G syndrome
chromosome 22 trisomy syndrome
Trisomy 21 / Down Syndrome (DS) — also see Anorectal malformations and Down's syndrome.

No known cause can be established for this condition in most cases. Fetal / neonatal anomalies such as imperforate anus (and other conditions associated with VACTERLS / VATERS) are indicated with the use of the fertility drug clomiphene citrate (brand names Clomid®; Serophene®; Milophene®).
Clomid Side Effects & Drug Interactions

"Fetal/Neonatal Anomalies: The following fetal abnormalities have also been reported during postmarketing surveillance: delayed development; abnormal bone development including skeletal malformations of the skull, face, nasal passages, jaw, hand, limb (ectromelia including amelia, hemimelia, and phocomelia), foot, and joints; tissue malformations including imperforate anus, tracheoesophageal fistula, diaphragmatic hernia, renal agenesis and dysgenesis, and malformations of the eye and lens (cataract), ear, lung, heart (ventricular septal defect and tetralogy of Fallot), and genitalia; as well as dwarfism, deafness, mental retardation, chromosomal disorders, and neural tube defects (including anencephaly)."

In some (rare) cases, it has been said that autosomal recessive inheritance has been observed which means that both parents carry a gene for the condition and the baby receives both copies of the gene. In those cases, there is said to be a one in four (25%) chance that the malformation will present in a future pregnancy.

Additional sources of information on Imperforate Anus / Anorectal Malformations:
Imperforate Anus / Anorectal Malformations – Cincinnati Children's Hospital Medical Center
Imperforate Anus: Surgical Perspective
Google search

Support groups:
The Pull-thru Network
The VATER Connection
VaterAssociation – Yahoo! Groups

Related reading:
Atlas of Surgical Management of Anorectal Malformations
Anorectal Malformations in Children: Embryology, Diagnosis, Surgical Treatment, Follow-up

All information contained on this web site is for INFORMATIONAL PURPOSES ONLY. It is not meant to be a substitute for the advice of your own physician and/or other professionals. You should not use the information contained on this site for diagnosing or treating a health problem. Consult your doctor for medical advice. Links to other sites are provided for information only — they do not constitute endorsement.

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