Weird Syndrome We Should Know

The process of testing new born babies or infant is called new born screening. This method examines new born infant for genetic conditions that are treatable, these genetic conditions includes, hematologic and metabolic illnesses as well as endrocrinology. In 1960’s Robert Guthrie pioneered the discovery for the screening of phenylketonuria. The process comprises pricking a 2 day old new born baby’s heel; thus the blood specimen is used for the examination. These test is now acknowledged in many countries all over the world. For the parents, seeing their babies suffers a rare kind of disease/ syndrome, and we knowing that cure is remote, how should any parent  feels about it? I do  hope these few information can help parents seeking studies about these syndromes.

1) Achondronegenesis Syndrome

Marco Fraccaro, discovered this syndrome in 1952 and he characterized this still born baby with severe micromelia and the cartilage change and described forms of chondrodys plasia, in human which are very lethal before or after birth. Infant with Achondogenesis type ll, have larger heads, prominent and large forehead, flat-facial plane, flat nasal bridge, small nose with severe adverted nostrils, micrognathia, extremely short neck, short and flared thorax, protuberant abdomen and short upper extremities.

2) Apert Syndrome

Apert sybdrome is a rare disorder described by craniosynostosis, craniofacial, severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. Oftentimes the features of the Apert patients, is ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supra-orbital ridge, break of the continuity of eyebrows, depressed nasal bridge and short wide nose with bulbous tip, nailbed (synonychia)

3) Arthrogryposis

The major cause of this syndrome is the fetal Akinesia (decrease fetal movements) because of fetal abnormalities (neurogenic. muscle or connective tissues and mechanical that limits the movement or maternal disorder maybe infection, drugs, trauma and other illness of maternal during pregnancy. The fetal akinesia can cause polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism and short umbilical cord. Also known as Beal’s syndrome.

4) Jeune Syndrome

Jeune syndrome or asphyxiating thoracic dystrophy, is an inherited form of dwarfism characterized by short limbs, small chests and kidney problems. Some studies said that Jeune syndrome occurs,  1 is to 100,000 in birth. Maybe both parents are carrier of the inherited syndrome. Long narrow thorax with respiratory difficulty, short upper extremity and short acromatic.

5) Cornelia de Lange Syndrome

Cornelia De Lange Syndrome (CdLS) is a genetic disorder that can lead to severe developmental disorder affecting physical and intellectual development of a child. Cornelia de Lange’s syndrome features are low birth weight under 5lbs, developmental delay, missing portion of limbs, microcephaly, thick eyebrows meeting at synophrys (midline), long eyelashes, short upturned-nose, thin down-turned lips, long philtrum, excessive body hair, small hands and feet, small widely spaced teeth, hearing impairments, Vision disorder (ptosis, nystagmus, high myopia, hypertropia), seizures, partial joined of 2nd and 3rd toes, and incurres 5th finger.

6) Cri-Du-Chat Syndrome

Cri-du-chat syndrome otherwise known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, a rare genetic abnormalities. Most common in female and described and signs of symptom are low-muscle tone (hypotonia), small-heads(microcephaly), growth retardation, round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmer creases and heart defects.

7) Crouzon Syndrome

Crouzon syndrome or Bronchial-arch syndrome, lower ears on the fetus than of the adults, resulting to loss of hearing and in most cases, Menieres’ disease happened. Menieres disease is the disorder of the inner ear that can effect hearing and balance to a varying degree, characterized by episodes of vertigo(dizziness, nausea and vomiting), tinnitus(a ringing sound or perception of sound within the human ear in the absence of corresponding external sound) and progressive loss of hearing affecting one ear only in most cases.

Fabry Syndrome

Fabry disease also known as Angiokeratoma Corporis Diffusum, Alpha-galactosidase A difficiency, a rare X-link recessive lysosomal storage disease, which can cause a wide range of systemic symptoms lysosomal storage disease a group of 40 rare inherited metabolic disorders that result from defects diagnosed through blood tests to measure the level of Alpha-Galactosidase activity but misleading to the female carriers due to random nature of X-inactivation. Enzyme replacement therapy is not a cure, but can allow normal metabolism and prevent the progression of the disease as potential reverse symptoms.

9) Proteus Syndrome

Treacher-Collins syndrome or Treacher-collins Franceschetti syndrome or TCS, is a rare genetic abnormality describing TCS by craniofacial deformity, downward slanting eyes, micrognathia (small lower jaw), deaf, undeveloped skull-bone(Zygoma), drooping part of lateral lower eyelids, missing ear or deformed ears.

10) Klippel-Feil Syndrome

Klipper-Feil syndrome is a rare disease describing congenital fusion of any 2 of the 7 cervical vertebrae, and occurs in heterogenous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Related abnormality are scoliosis (side to side curvature of the spine), spina bifida, kidneys and ribs malfunction, cleft lip and palate,respiratory problem and heart disorder connected to the head and face, skeleton, sex organs, muscle, brain, spinal cord, arms and legs, fingers.

11) Menkes-Kinky Hair Syndrome

Menkes Kinky Hair syndrome, an inherited X-linked recessive abnormality related to deficient copper levels of the cells. Signs and symptoms are floppy baby(hypotonia), pudgy-rosy cheeks, irritable, brittle-kinky hair, seizures, difficult to feed, bone spurs and low body temperature. Mental disorder is progressive and in most cases death occurs in the first year of baby’s life.

13) Neurofibromatosis

The Neurofibromatosis (NF) is a inherites genetics abnormality that affects the nerve tissue grows tumors (neurofibromas), may be harmless but causes damages by other tissues and compressive nerves. In most cases it affects all neural crest cells, schwann cells, melaocycles endoneural fibro blasts. Most tumors causes bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots. (Wilkipedia)

14) Noonan Syndrome

Noonan syndrome patient’s have unusual facies and multiple malformation that includes congenital heart disease. Noonan syndromes are oftentimes identified as Turner Syndrome because of the most common symptoms and sign seen in Noonan syndrome, like short statures, mental-retardation, neurologic skeletal problem, genitourinary, lymphatic eye and skin findings may present to various degrees and bleeding diathesis is present in most cases of Noonan syndrome.

15) Wolf Hirschhorn Syndrome

WHS have characteristic dysnorphic facial features, prominent glabella, hypertelorism, beaked nose, frontal bossing and described as “Greek Warrior Helmet” facies. It is characterized of mental retardation, seizures, facial appearance and midline closure deffects. Usual cause of death in WHS, is heart failure, aspiration of pneumonia, infections and seizure.

16) Waardenburg Syndrome

Waardenburg syndrome have higher risks for neural tube disorder, cleft lip and palate are present in some cases, limba abnormality and Hirschsprung disease is present, hearing impairment, dystopia Canthorun and pigmentary disorder of the hair, skin and eyes. Marked facial asymmetry, lagophtalmos, a drooping right corner of the mouth. (emedicine.medscape.com)

17) Trisonomy 18 or Edwards Syndrome

Trisonomy 18 or commonly called Edwards syndrome, characterized by severe pschomotor and growth retardation, microcephaly, microphhtalmia, deformed ears, micrognathia or retrognathia, microsostomia, clenched fingers and other congenital deformity.

18) Klippel-Trenaunay-Weber Syndrome

Ellis Van Creveld or Chondroectodermal dysplaxia. disproportionate dwarfism, postaxial polydactyly, ectodermal dysplaxia, small chest and high frequency of congenital heart problems and characterize autosomal recessive syndrome, which has increase occurrence with people of Old Order Amish descent. For infants narrow chest and not proportioned dwarfism and postaxial polydactyly are visible signs of this syndrome.

19) Kearns- Sayre Syndrome

Kearns-Sayre syndrome describes the onset of ophthalmoparesis and pigmentary retinophaty before age 20. The bilateral sensorineural hearing loss is almost universal for those surviving the 4th year of life and hearing impairment cannot be corrected by hearing aids.

20) Klinefelter Syndrome

Klinefelter Syndrome male patients described as having enlargement of breasts, sparse facial and body hair, small testes and inability to produce sperm, have an extra sex chromosome (genotype XXY), instead f the usual male sex complement (genotype XX) and this is the common chromosonal malfunction related to male hypogonadism and infertility. Adolescent male with Klinefelter syndrome has female-type distribution of pubic hair and testicular dysgenesis).