Weird Syndrome We Should Know

In this post I discuss about interesting diseases, most people will consider these as weird diseases. Most of the weird syndromes listed here are rare. And some, you might have heard before.

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 suffer a rare kind of disease or weird disease/syndrome, and knowing that cure is remote, the emotional pain that they are experiencing is totally understandable. I do hope these few information can help parents seeking studies about these syndromes.

1) Achondronegenesis Syndrome


Achondrogenesis Infant Type ll (


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 Syndrome (

Apert Syndrome Profile (

Apert Syndrome Hands (

Apert Syndrome Foot (

Apert sybdrome is a rare disorder (I also consider this as one of the interesting diseases) 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

Arthrogryposis Syndrome (

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 (

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 (

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 joining of the second and third toes. CdLS is also called as Bushy Syndrome and is also known as Amsterdam dwarfism.

6) Cri-Du-Chat Syndrome


Cri du chat or Cri-du-chat syndrome (source:Wikipedia)

Cri du chat or Cri-du-chat syndrome (source:Wikipedia)












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 (source:Wikipedia)

Crouzon Syndrome (source:Wikipedia)











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.

8) Fabry Syndrome


Fabry disease with Angio kreatoma

Fabry disease with Angio kreatoma








Fabry disease, symptoms with bilateral, whorl-like corneal pattern of cream colored lines

Fabry disease, symptoms with bilateral, whorl-like corneal pattern of cream colored lines







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) Treacher collins syndrome

Bilateral hemifacial microsomia, similar to Treacher Collins syndrome

Bilateral hemifacial microsomia, similar to Treacher Collins 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

Klippel-Feil syndrome

Klippel-Feil syndrome











harelip or cleft palate (klippel-Feil syndrome) Wilkipedia

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-Hypotonia (

Menkes-Kinky Hair Disease (Wilkipedia)

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

Neurofibromatosis (back of a woman) (Wilikipedia)

Neurofibromatosis (in the face) (

The Neurofibromatosis (NF) this weird disease 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

Noonan syndrome










Noonan syndrome patient’s have unusual faces 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) Hypertlorism












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

16) Waardenburg Syndrome

Waardenburg-Klein syndrome patient

Waardenburg-Klein syndrome patient










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. (

17) Trisonomy 18 or Edwards Syndrome

Trisonomy 18 or Edwards Syndrome (clenched hand) (emedicine.medscape.c0m)

Trisonomy 18 or Edwards Syndrome (rocker-bottom-foot) (

Trisonomy 18 or commonly called Edwards syndrome, is another weird disease 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

Gorbachev with  port-wine stain or nevus flammeus on his forehead

Gorbachev with port-wine stain or nevus flammeus on his forehead










port-wine stain or nevus flammeus hands

port-wine stain or nevus flammeus hands







varicose veins

varicose veins








Klippel–Trénaunay–Weber syndrome, often simply Klippel–Trénaunay syndrome (KTS) is a rare medical congenital condition in which failure lymph vessels and blood vessels to develop properly. The three main features are port-wine stain (nevus flammeus), deformities of lymphatic and venous, and hypertrophy soft tissue affecting limb. The symptoms diagnosed on birth defect by the presence of a combination of these symptoms: One or more noticeable port-wine stains (commonly called birth marks) with sharp borders, varicose veins, increase in the volume of an organ or tissue due to the enlargement of its cells (hypertrophy) component of bony and soft tissues, that can result to local gigantism or shrinking, and the undeveloped lymph system. There are some cases, port-wine stains (capillary port wine type) are not present, and this are very rare cases and may be classified as atypical Klippel–Trenaunay syndrome. KTS can either affect blood vessels, lymph vessels, or both, but this syndrome condition commonly presents with a mixture of the two. Those with affected venous or lymphatic condition can experience increased pain and complications. This Klippel-Trenaunay-Weber syndrome’s birth defect affects men and women equally, and is not limited to any racial group.

Ellis Van Creveld Syndrome


Ellis Van Creveld Syndrome (

Ellis Van Creveld or Chondroectodermal dysplaxia is one of the interesting diseases I have researched about. Ellis Van Creveld Syndrome is characterized by 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

Kearnes 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 with klinefelter) (

Klinefelter Syndrome (male with gynecomastia) (

Klinefelter Syndrome is another weird disease in which the 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).



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