Carrier testing for Roberts syndrome requires prior identification of the disease-causing mutation in the family. Carriers for the disorder are heterozygotes due to the autosomal recessive nature of the disease. Carriers are also not at risk for contracting Roberts syndrome themselves. A prenatal diagnosis of Roberts syndrome requires an ultrasound examination paired with cytogenetic testing or prior identification of the disease-causing ESCO2 mutations in the family.

The diagnosis of AOS is a clinical diagnosis based on the specific features described above. A system of major and minor criteria was proposed.

The combination of two major criteria would be sufficient for the diagnosis of AOS, while a combination of one major and one minor feature would be suggestive of AOS. Genetic testing can be performed to test for the presence of mutation in one of the known genes, but these so far only account for an estimated 50% of patients with AOS. A definitive diagnosis may therefore not be achieved in all cases.

Cytogenetic preparations that have been stained by either Giemsa or C-banding techniques will show two characteristic chromosomal abnormalities. The first chromosomal abnormality is called premature centromere separation (PCS) and is the most likely pathogenic mechanism for Roberts syndrome. Chromosomes that have PCS will have their centromeres separate during metaphase rather than anaphase (one phase earlier than normal chromosomes). The second chromosomal abnormality is called heterochromatin repulsion (HR). Chromosomes that have HR experience separation of the heterochromatic regions during metaphase. Chromosomes with these two abnormalities will display a "railroad track" appearance because of the absence of primary constriction and repulsion at the heterochromatic regions. The heterochromatic regions are the areas near the centromeres and nucleolar organizers. Carrier status cannot be determined by cytogenetic testing. Other common findings of cytogenetic testing on Roberts syndrome patients are listed below.

- Aneuploidy- the occurrence of one or more extra or missing chromosomes

- Micronucleation- nucleus is smaller than normal

- Multilobulated Nuclei- the nucleus has more than one lobe

The diagnosis of Jackson–Weiss syndrome is done via the following:

- Genetic testing

- Clinical presentation

The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis.

The diagnosis CFND is established only after the presence of a mutation in the EFNB1 gene has been determined. Physical manifestations are not necessarily part of the diagnostic criteria, but can help guide in the right direction. This is due to the large heterogeneity between patients regarding phenotypic expression.

20% of the patients that present with CFND-like characteristics do not display a mutation in the EFNB1 gene. The group of patients diagnosed with CFND is thus often overestimated. However, it is important to distinguish this population from CFND for research purposes. On the other hand, especially in males, it is possible that someone is a carrier of the EFNB1 gene mutation yet does not present with any physical manifestations. Screening for the presence of an EFNB1 mutation is thus the most reliable method to establish the diagnosis CFND.

Genetic counseling or prenatal screening may be advised if there is a reason to suspect the presence of an EFNB1 gene mutation. Prenatal screening may be done by performing an ultrasound, where can be searched specifically for hypertelorism or a bifid nasal tip. However, this is quite difficult as facial involvement may not be obvious at such an early age, especially in cases with mild phenotypic presentation. The most definitive way to prove the presence of CFND is done by genetic testing, through amniocentesis and chorionic villus sampling. This however carries a greater risk of premature termination of the pregnancy.

The diagnosis of Muenke syndrome is suspected bases on abnormal skull shape and a diagnosis of coronal craniosynostosis. In 2006, Agochukwu and her colleagues concluded that “A distinct Muenke syndrome phenotype includes: uni or bilateral coronal synostosis, midface hypoplasia, broad toes, and brachydactyly.” Due to phenotypic overlap and/or mild phenotypes, clinical differentiation of this syndrome may be difficult. The suspected diagnosis is confirmed by a blood test to check for gene mutation. To establish the extent of disease in an individual diagnosed with Muenke syndrome, various evaluations are recommended.

The overall prognosis is excellent in most cases. Most children with Adams–Oliver syndrome can likely expect to have a normal life span. However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability.

Diagnosis is based on clinical findings.

'Clinical findings'

- Profound congenital sensorineural deafness is present

- CT scan or MRI of the inner ear shows no recognizable structure in the inner ear.

- As michel's aplasia is associated with LAMM syndrome there will be Microtia and microdontia present(small sized teeth).

Molecular genetic Testing

1. "FGF3" is the only gene, whose mutation can cause congenital deafness with Michel's aplasia, microdontia and microtia

Carrier testing for at-risk relatives requires identification of mutations which are responsible for occurrence of disease in the family.

A clinical diagnosis of SCS can be verified by testing the TWIST1 gene (only gene in which mutations are known to cause SCS) for mutations using DNA analysis, such as sequence analysis, deletion/duplication analysis, and cytogenetics/ FISH analysis. Sequence analysis of exon 1 (TWIST1 coding region) provides a good method for detecting the frequency of mutations in the TWIST1 gene. These mutations include nonsense, missense, splice site mutation, and intragenic deletions/insertions. Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. Common methods include PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA). Cytogenetic/FISH analysis attaches fluorescently labels DNA markers to a denatured chromosome and is then examined under fluorescent lighting, which reveals mutations caused by translocations or inversions involving 7p21. Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in atypical findings, such as, increased developmental delay. Individuals with SCS, typically have normal brain functioning and rarely have mental impairments. For this reason, if an individual has both SCS and mental retardation, then they should have their TWIST1 gene screened more carefully because this is not a normal trait of SCS. Cytogenetic testing and direct gene testing can also be used to study gene/chromosome defects. Cytogenetic testing is the study of chromosomes to detect gains or losses of chromosomes or chromosome segments using fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization (CGH). Direct gene testing uses blood, hair, skin, amniotic fluid, or other tissues in order to find genetic disorders. Direct gene testing can determine whether an individual has SCS by testing the individual's blood for mutations in the TWIST1 gene.

A thorough diagnosis should be performed on every affected individual, and siblings should be studied for deafness, parathyroid and renal disease. The syndrome should be considered in infants who have been diagnosed prenatally with a chromosome 10p defect, and those who have been diagnosed with well defined phenotypes of urinary tract abnormalities. Management consists of treating the clinical abnormalities at the time of presentation. Prognosis depends on the severity of the kidney disease.

The key problem is the early fusion of the skull, which can be corrected by a series of surgical procedures, often within the first three months after birth. Later surgeries are necessary to correct respiratory and facial deformities.

While there is no cure for BGS, symptoms can be treated as they arise. Surgery shortly after birth can repair craniosynostosis, as well as defects in the hand to create a functional grasp. There are risks associated with untreated craniosynostosis, therefore surgery is often needed to separate and reshape the bones. Since patients with a RECQL4 mutation may be at an increased risk of developing cancer, surveillance is recommended.

Up until recently, experts frequently disagreed on whether a patient had SCS, Crouzon syndrome, isolated craniosynostosis, or some other disease because the symptoms are so closely related, they literally had no way of differentiating between all of them. However, we now have direct gene testing, which allows for a more definitive diagnosis because it allows them to be differentiated from each other based on which gene is mutated in each condition. The following is a list of conditions commonly confused/misdiagnosed for SCS, some of their symptoms, and which mutated gene each contains:

The frequency is unknown, but the disease is considered to be very rare.

Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.

This syndrome has been associated with mutations in the ARID1B gene.

Mutations in SOX11 are associated to this syndrome.

The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding.

Although no cause has been officially confirmed, researchers speculate the disease might result from a genetic mutation that sporadically occurs for unknown reasons.

Children with Pfeiffer syndrome types 2 and 3 "have a higher risk for neurodevelopmental disorders and a reduced life expectancy" than children with Pfeiffer syndrome type 1, but if treated, favorable outcomes are possible. In severe cases, respiratory and neurological complications often lead to early death.

The diagnosis of Carpenter Syndrome is made based on the presence of the bicoronal and sagittal skull malformations, which results in a pointed, cone-shaped or short, broad head. The diagnosis is also made based on the presence of extra or fused digits. X rays and/ or CT scans of the skull may be performed in order to accurately diagnose the individual; however, other genetic disorders, which have available genetic tests, are also characterized by skull malformations. A positive result on these tests can rule out a Carpenter Syndrome diagnosis.

The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens (Tel Aviv), Rodríguez (Madrid), Richieri-Costa and Patterson-Stevenson-Fontaine forms.

The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. Since the disorder is very rare, its incidence rate is difficult to estimate, but is less than 1 in 10,000.

The treatment of Muenke syndrome is focused on the correction of the abnormal skull shape and mirrors the treatment of coronal craniosynostosis. The abnormal growth patterns continue throughout the growing years; therefore, intervention, accurate diagnosis, and a customized, expertly carried-out treatment plan should be a primary concern. The treatment of Muenke syndrome is focused on correction of the abnormal skull shape and mirrors the treatment of non-syndromic coronal craniosynostosis. Although the timing of surgery can be highly individualized, surgical correction of the bicoronal craniosynostosis is most often done between 6 and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair of the head. Your craniofacial surgeon will work in concert with a pediatric neurosurgeon in order to safely remove the bones of the skull. Then, the craniofacial surgeon reshapes and repositions those bones to give a more normal skull shape.

There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression. Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance.

Surgical corrections for the main symptoms;

- Craniosynostosis correction: The preferred age for this procedure is between 6–9 months of age. Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents prolonged elevated intracranial pressure (ICP). However, the data for the exact risk of an elevated intracranial pressure for patients with CFND is lacking in the published literature. The surgery involves a frontal bone advancement in combination with remodellation of the supraorbital rim.

- Orbital hypertelorism: It is preferred to wait with this treatment until the age of 5–8 years old, after permanent dentition. The procedures that can be performed are the facial bipartition and the box osteotomy. Facial bipartition is the more preferable choice as there are less additional corrections needed, as well as providing a more stable long-term result after treatment. After the correction of the orbitas, the medial corners of the eyes are put more into a horizontal line.

- Nasal deformity correction: The correction of the broad nasal base is simultaneously done with the orbital hypertelorism repair. This is for good alignment of the eyes with the nose for the best aesthetic result. A bifid nose tip will only be treated at the age of 18, when the patient's skeleton has fully matured.

Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.

There had been 31 reported cases by 1991. The numbers of occurrence since then has grown and is reported to be around 80.

The differential includes Nicolaides–Baraitser syndrome.

Operations to correct the malformations of the skull should be performed within the first year of infancy in patients affected by Carpenter Syndrome. Performing surgery at a young age increases the likelihood of obtaining a greatly improved appearance of the head because modifying bone is much easier to do when the skull is still constantly growing and changing.

In surgery the doctor breaks the fused sutures to allow for brain growth. Doctors remove the cranial plates of the skull, reshape them and replace them back onto the skull in an attempt to reshape the head to appear more normal. Although the sutures are broken during surgery they will quickly refuse, and in some cases holes form in the plates allowing cerebral spinal fluid to escape into cyst like structures on the external surface of the head.

If an individual with Carpenter Syndrome has a serious heart defect they will require surgery to correct the malformation of the heart. Other elective surgeries may also be performed. Some parents opt to have their child’s webbed fingers or toes separated which improves their appearance but not necessarily the functionality of the digits. In order to address the occupational challenges of the disease, many children with Carpenter Syndrome go through speech and occupational therapy in order to achieve more independence in everyday tasks and activities (RN, 2007).

In order to address the vision problems that are associated with bicoronal craniosynostosis, the individual must seek consultation from an ophthalmologist. If the palate is severely affected dental consultation may be necessary to correct the malformation. Obesity is often associated with Carpenter Syndrome, so a lifelong diet plan is often utilized to maintain a healthy weight. In addition surgery must be performed if the testes fail to descend (Paul A. Johnson, 2002). If the procedure is not performed the individual will become infertile.