It is difficult to determine whether a kitten that goes flat will survive or not. A good indicator is the weight of the kitten: those that continue to gain weight generally have a better chance of survival. Supplement feeding is therefore recommended in all cases, together with vitamin supplements, although many of these kittens will not accept hand feeding. Liquid Paraffin to alleviate colic seems to be significant in assisting normal feeding and weight-gain.

Another indicator to the severity of the case is the use of the stomach when breathing: normal kittens use only the ribcage, a flat-chested kitten may manage to breathe only using the ribcage, or may suck the gut upwards with every breath – if the latter is the case then the likelihood of survival seems to be lower, though still not sufficient to warrant immediate euthanasia. If the condition is stable (i.e. the flatness does not increase over time) or improving, the kitten is more likely to survive. If the condition worsens over several days, survival is less likely.

Kittens with FCKS may die (or have to be euthanased) very soon after onset. There are two points at which breeders report kittens that were otherwise doing well deteriorating and dying: at 10 days of age and at 3 weeks. Generally if the kitten is still flat, but survives the 3-week developmental stage, its prognosis is good. Many will have returned to a normal shape by this time. Those retaining some degree of flatness often grow out of the condition at any point in the ensuing 6 months, and the vast majority of survivors appear to lead normal lives with no side-effects, either physical or immunological.

FCKS kittens that survive but who have not been given any drug treatment or support other than supplementary feeding, generally recover over a period of 4–10 weeks, and are usually normal by 12 weeks of age, though some take as long as 6 months to normalise. In the very small number of kittens reported so far treated with steroids, antibiotics and liquid paraffin (to address colic) recovery is usually seen within a matter of days. Given the number of different types of FCKS these kittens (all with the minor form of the condition) may not be representative of all cases. More data is required for statistical analysis.

A small proportion of severe FCKS kittens are left with long-term respiratory problems, kyphosis, and in some cases cardiac issues caused by the compression of the thorax during the early developmental stages (particularly where the condition has been coupled with Pectus Excavatum). Cardiac issues are generally audible on physical examination; further indications include the kitten becoming breathless after play, less active than siblings, and failure to grow and develop normally.

Treatment is difficult to define given the number of different causes and the wealth of anecdotal information collected by and from cat breeders. Treatments have hitherto been based on the assumption that FCKS is caused by a muscular spasm, and their effectiveness is impossible to assess because some kittens will recover spontaneously without intervention.

Diaphragmatic spasm is easily tested for and treated by short term interruption of the Phrenic nerve. The nerve runs down the outside of the neck where the neck joins to the shoulder, within a bundle of muscles and tendons at this junction. The cluster can be pinched gently and held for a few seconds each time. Kittens with spasmodic FCKS will show almost immediate improvement, but the treatment may need to be repeated several times over a few days as the spasm may have a tendency to recur. [Um für diapragmatisch Sparmus zu prüfen, Sie müssen der Phrenikus finden (es heisst auch der Zwerchfellnerv), der lauft am aussen des Hals, wo der Hals trifft die Schulter. Da gibt es mehrere Muskeln und Sehnen–da es unmoeglich ist die Nerv allein zu finden bzw. kneifen, müssen Sie die ganze Menge zusammen ruhig kneifen für ein paar Sekunden. Wenn es doch diapragmatisch Spasmus ist und Sie das Phrenikus gut kneifest (manchmal aber nicht immer werde die Katze mit den hinteren Beinen kicken), sollen Sie sofort eine Verbesserung anschauen. Es kann sein, dass die Spasmus wieder kommt nachher im kommenden Tage—in dem Fall müssen Sie es nochmal machen. Wenn Sie aber keine Verbesserung siehst, ist der Problem dann leider etwas anders.]

Continuous positive air pressure (CPAP) is used in human babies with lung collapse, but this is impossible with kittens. It is possible that the success of some breeders in curing kittens by splinting the body, thus putting pressure on the ribcage, was successful as it has created the effect of positive air pressure, thus gradually re-inflating the lungs by pulling them open rather than pushing them open as is the case with CPAP.

Differential diagnosis includes Angelman syndrome, Mowat–Wilson syndrome and Rett syndrome.

Diagnosis is made by showing a mutation in the TCF4 gene.

Around 50% of those affected show abnormalities on brain imaging. These include hypoplastic corpus callosum with a missing rostrum and posterior part of the splenium with bulbous caudate nuclei bulging towards the frontal horns.

Electroencephalograms show an excess of slow components.

All have low levels of immunoglobulin M (IgM) but features of an immunodeficiency are absent.

Brachycephaly can be corrected with a cranial remolding orthoses (helmet) which provide painless total contact over the prominent areas of the skull and leave voids over the flattened areas to provide a pathway for more symmetrical skull growth. Treatment generally takes 3–4 months, but varies depending on the infant's age and severity of the cranial asymmetry.

However studies by scientists in the Netherlands have found there was no significant difference over time between infants treated with helmets and infants left untreated. All parents of infants treated with helmets confirmed negative side effects including skin irritation and sweating.

This study focused only on patients with mild to moderate cases, the participation rate was only 21%, and there was a 73% reporting of fitting issues, calling into question the validity of the study. Incorrectly fit devices cannot be expected to yield results. Additionally, independent published research that examined the effectiveness of helmet therapy conclude that as many as 95% of

patients demonstrate an improvement in head shape symmetry following helmet therapy, and the American Orthotics and Prosthetics Association (AOPA) has serious concerns about the relevance and validity of this study.

Barrel chest generally refers to a , deep chest found on a man. A man described as barrel chested will usually have a naturally large ribcage, very round torso, large lung capacity, and can potentially have great upper body strength. It can sometimes be a sign of acromegaly (a syndrome resulting from excess levels of human growth hormone (HGH) in the body). It is most commonly related to osteoarthritis as individuals age. Arthritis can stiffen the chest causing the ribs to become fixed in their most expanded position, giving the appearance of a barrel chest.

Barrel chest also refers to an increase in the anterior posterior diameter of the chest wall resembling the shape of a barrel, most often associated with emphysema. There are two main causes of the barrel chest phenomenon in emphysema:

1. Increased compliance of the lungs leads to the accumulation of air pockets inside the thoracic cavity.

2. Increased compliance of the lungs increases the intrathoracic pressure. This increase in pressure allows the chest wall to naturally expand outward.

Barrel chest occurs naturally in native people who live at altitudes of over 5500 m, e.g. the Himalayas or the Andes. These natives also have polycythemia and other accommodations for high altitude life.

There is no treatment for FTHS, though identification of TKS4 mutation as a causative factor may eventually provide new opportunities for neonatal screening in high-risk families.

Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor or nurse at birth. Genetic counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. G-banded karyotype of a carrier is also useful. Children may be treated by speech, physical and occupational therapists. Heart abnormalities often require surgical correction.

Weissenbacher-Zweymüller syndrome is diagnosed upon a thorough clinical evaluation, detailed patient history, identification of characteristic symptom and a variety of specialized tests which includes x-rays.

The isochromosome i(12p) can be primarily detected in samples of skin fibroblasts, as well as in chorionic villus and amniotic fluid cell samples. Very rarely, it can also be detected in blood lymphocytes. It is also possible to detect the isochromosome in circulating lymphocytes, as well as other amniotic and placental samples. There is no strict limit as to where the isochromosome can be found. However, it is often unlikely that these samples will be tested when the blood karyotype is normal.

Using an ultrasound, Pallister-Killian may be diagnosed through observation of hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia, and hydramnios. Once born, a child may be diagnosed by observation of the syndrome's distinct facial features.

Figueroa and Pruzanksky classified HFM patients into three different types:

- Type I : Mild hypoplasia of the ramus , and the body of the mandible is slightly affected.

- Type II : The condyle and ramus are small, the head of the condyle is flattened , the glenoid fossa is absent , the condyle is hinged on a flat, often convex, infratemporal surface , the coronoid may be absent.

- Type III: The ramus is reduced to a thin lamina of bone or is completely absent. There is no evidence of a TMJ.

There is no cure as of now. Treatment is directed towards the specific symptoms that are present in each individual. Individuals with hearing loss are able to get treated with hearing aids.

Uncombable hair syndrome, also known as Pili trianguli et canaliculi, Spun-glass hair, and Cheveux incoiffables, is a rare structural anomaly of the hair with a variable degree of effect. It was first reported in the early 20th century and was described in the 1970s. It becomes apparent from as little as 3 months to up to 12 years of age.

There is no standard treatment for the hand malformations in Apert due to the differences and severity in clinical manifestations in different patients. Every patient should therefore be individually approached and treated, aiming at an adequate balance between hand functionality and aesthetics.

However, some guidelines can be given depending on the severity of the deformities.

In general it is initially recommended to release the first and fourth interdigital spaces, thus releasing the border rays.

This makes it possible for the child to grasp things by hand, a very important function for the child's development. Later the second and third interdigital spaces have to be released.

Because there are three handtypes in Apert, all with their own deformities, they all need a different approach regarding their treatment:

- Type I hand usually needs only the interdigital web space release. First web release is rarely needed but often its deepening is necessary. Thumb clynodactyly correction will be needed.

- In type II hands it is recommended to release the first and fifth rays in the beginning, then the second and the third interdigital web spaces have to be freed. The clynodactyly of the thumb has to be corrected as well. The lengthening of the thumb phalanx may be needed, thus increasing the first web space. In both type I and type II, the recurrent syndactyly of the second web space will occur because of a pseudoepiphysis at the base of the index metacarpal. This should be corrected by later revisions.

- Type III hands are the most challenging to treat because of their complexity. First of all, it is advised to release the first and fourth webspace, thus converting it to type I hand. The treatment of macerations and nail-bed infections should also be done in the beginning. For increasing of the first web space, lengthening of the thumb can be done. It is suggested that in severe cases an amputation of the index finger should be considered. However, before making this decision, it is important to weigh the potential improvement to be achieved against the possible psychological problems of the child later due to the aesthetics of the hand. Later, the second and/or third interdigital web space should be released.

With growing of a child and respectively the hands, secondary revisions are needed to treat the contractures and to improve the aesthetics.

The hair is normal in quantity and is usually silvery-blond or straw-colored. It is disorderly, it stands out from the scalp, and cannot be combed flat. The underlying structural anomaly is longitudinal grooving of the hair shaft, which appears triangular in cross section. This is caused by mutations in one of three possible genes; "PADI3", "TGM" or "TCHH3." The characteristic hair shaft anomaly can be demonstrated in asymptomatic family members by scanning electron microscopy. To be noticeable, 50% of hairs must be affected by the structural abnormality. Improvement often occurs in later childhood. An autosomal dominant mode of inheritance has been suggested though an autosomal recessive pattern with varying degrees of penetrance has also been noted. The stiffness of the uncombable hair has been reasoned to be due to the triangular form of the hair shaft in cross section. It has been suggested that the condition may result from premature keratinization of the inner root sheath.

Depending upon the treatment required, it is sometimes most appropriate to wait until later in life for a surgical remedy – the childhood growth of the face may highlight or increase the symptoms. When surgery is required, particularly when there is a severe disfiguration of the jaw, it is common to use a rib graft to help correct the shape.

According to literature, HFM patients can be treated with various treatment options such functional therapy with an appliance, distraction osteogenesis, or costochondral graft. The treatment is based on the type of severity for these patients. According to Pruzanksky's classification, if the patient has moderate to severe symptoms, then surgery is preferred. If patient has mild symptoms, then a functional appliance is generally used.

Patients can also benefit from a Bone Anchored Hearing Aid (BAHA).

13q deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. Increased nuchal translucency in a first-trimester ultrasound may indicate the presence of 13q deletion.

Omphalocele has been described in two patients with Apert syndrome by Herman T.E. et al. (USA, 2010) and by Ercoli G. et al. (Argentina, 2014). An omphalocele is a birth defect in which an intestine or other abdominal organs are outside of the body of an infant because of a hole in the bellybutton area. However, the association between omphalocele and Apert syndrome is not confirmed yet, so additional studies are necessary.

Diagnosis of effusive FIP has become more straightforward in recent years: detection of viral RNA in a sample of the effusion, by reverse-transcriptase polymerase chain reaction (RT-PCR) is diagnostic of effusive FIP. However, that does require that a sample be sent to an external veterinary laboratory. Within the veterinary hospital there are a number of tests which can rule out a diagnosis of effusive FIP within minutes:

1. Measure the total protein in the effusion: if it is less than 35g/l, FIP is extremely unlikely.

2. Measure the albumin to globulin ratio in the effusion: if it is over 0.8, FIP is ruled out, if it is less than 0.4, FIP is a possible—but not certain—diagnosis

3. Examine the cells in the effusion: if they are predominantly lymphocytes then FIP is excluded as a diagnosis.

Ischiopatellar dysplasia is usually identified through radiographic evidence since its characteristic changes are most notable in radiographic tests that indicate delayed boneage or absent ossification. A full skeletal survey should be performed on any patient that has an absent or hypoplastic patellae since they could potentially have ischiopatellar dysplasia. Magnetic resonance imaging (MRI) is especially helpful in the diagnosis of ischiopatellar syndrome and is recommended when an individual affected by ischiopatellar dysplasia has a traumatic injury to the knee.

A squitten is a cat with unusually short forelegs and/or unusually long hind legs that resembles a squirrel. It is an example of a cat body type genetic mutation. The word is a portmanteau of squirrel and kitten.

The term kangaroo cat is also, rarely, used; this derives from a 1953 specimen known as the Stalingrad Kangaroo Cat.

The term squitten is generally used to refer to cats with the condition radial hypoplasia (underdeveloped radius bones) or foreleg micromelia (small forelegs) and related conditions known as radial aplasia (absent radius bones), radial agenesis (failure of radius bones to form) that produces stunted forelegs. The mutation sometimes occurs in the random-breeding population, particularly in inbred populations where recessive genes may be exhibited. Such cats have also been called twisty cats; In the late 1990s, several were deliberately bred at Karma Farms, a horse farm and cattery in Marshall, Texas, resulting in a public outcry against the operators of the farm.

Radial hypoplasia is related to one form of polydactyly, sometimes called patty feet or hamburger feet by cat lovers to distinguish them from thumb cat polydactyls. Ordinary mitten cat polydactyls are not affected.

Cats with radial hypoplasia or similar mutations often sit on their rump with their forelegs unable to touch the floor; this gives them a resemblance to a squirrel or kangaroo. This raises special care considerations for owners of affected cats. Kittens may be unable to knead effectively with their short forelegs; kneading is required to stimulate milk flow in the mother. The short or twisted forelegs cause mobility problems and such cats may adapt by using their hindlegs in a hopping gait.

A corresponding condition affecting the hind legs is called femoral hypoplasia and has only been reported three times in cats.

Typical characteristics of a squitten are short forelegs, with a short radius and ulna which may be twisted or absent, extra front toes, and normal-length hind legs.

Following methods could serve as prevention: carrying the infant and tummy time.

Non-effusive FIP is more difficult to diagnose than effusive FIP because the clinical signs tend to be more vague and varied: the list of differential diagnoses is therefore much longer. Non-effusive FIP diagnosis should be considered when the following criteria are met:

1. History: the cat is young (under 2 years old) and purebred: over 70% of cases of FIP are in pedigree kittens.

2. History: the cat experienced stress such as recent neutering or vaccination

3. History: the cat had an opportunity to become infected with FCoV, such as originating in a breeding or rescue cattery, or the recent introduction of a purebred kitten or cat into the household.

4. Clinical signs: the cat has become anorexic or is eating less than usual; has lost weight or failed to gain weight; has pyrexia of unknown origin; intra-ocular signs; icterus.

5. Biochemistry: hypergammaglobulinaemia; raised bilirubin without liver enzymes being raised.

6. Hematology: lymphopenia; non-regenerative—usually mild—anaemia.

7. Serology: the cat has a high antibody titre to FCoV: this parameter should be used with caution, because of the high prevalence of FCoV in breeding and rescue catteries.

Non-effusive FIP can be ruled out as a diagnosis if the cat is seronegative, provided the antibody test has excellent sensitivity. In a study which compared various commercially available in-house FCoV antibody tests, the FCoV Immunocomb (Biogal) was 100% sensitive; the Speed F-Corona rapid immunochromatographic (RIM) test (Virbac) was 92.4% sensitive and the FASTest feline infectious peritonitis (MegaCor Diagnostik) RIM test was 84.6% sensitive.

Nablus mask-like facial syndrome is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.

It is characterized by a narrowing of the eyes, tight, glistening facial skin, and a flat, broad nose. Other features of the syndrome include malformed ears, unusual hair patterns on the scalp, bent fingers and toes and joint deformities in the hands and feet, unusual teeth, mild developmental delay, cryptorchidism, and a generally happy disposition. It is a rare genetic disorder by inheritance found in Palestinian people named after Nablus city in the West Bank. It is part of many new genetic disorders of newborns that is increasing exponentially in Arabs in recent years as reported by Centre for Arab Genomic Studies in Dubai.