A sudden changes in movements, behaviour or feelings, in levels of consciousness can be seizure, caused by uncontrolled electrical disturbance in the brain. There are...

Hearing loss may occur due to abnormal development of the facial bones and incomplete or abnormal development of the ears. Neonatal screening may not have...

Closure of the anterior fontanelle and sagittal and metopic sutures is delayed as part of the skeletal dysplasia in cleidocranial dysostosis.

a tubular-shaped nose, narrow palpebral fissures, thin hair, periorbital fullness, strabismus, hypertelorism (wide distance of inner corners of the eye), a short philtrum (connection lower...

Jaundice in the period after birth due to conjugated hyperbilirubinemia is called neonatal cholestasis. Biliary atresia and other congenital liver diseases are distinguished from physiological...

Jaundice in the period after birth due to conjugated hyperbilirubinemia is called neonatal cholestasis. Biliary atresia and other congenital liver diseases are distinguished from physiological...

In Duchenne Muscular Dystrophy, Creatine Kinase is elevated 10–100 times the normal level since birth. This is often accompanied by increased transaminases, which are produced...

The most frequent and typical presentation of rickets is bowing of the long bones, especially leg bowing. Bowing of the bone manifests from the age...

Hypoplasia of the facial bones may be the first indicator of Treacher Collins Syndrome (TCS). The cheek (malar or zygomatic) bone is smaller or absent...

Mandible Hypoplasia is a common feature of Treacher Collins Syndrome (TCS). The mandible is malformed and the angle can be underdeveloped or totally absent. The...

Microphthalmia occurs in the Oculo- Auriculo- Vertebral spectrum in the Goldenhar syndrome. Microphthalmia is an eye abnormality that arises before birth. In this condition, one...

Dermoid cysts in and around the eye are benign congenital choristomas, relative common in the pediatric population. Epibulbar and limbal dermoids are the ocular hallmarks...

Hearing loss may occur due to abnormal development of the facial bones and incomplete or abnormal development of the ears. Neonatal screening may not have...

Flare-ups are swellings around muscles and connective tissue. A flare-up occurs after injury, viral infection, overuse or spontaneous. Usually progresses from the axial regions to...

Block vertebrae occur when there is improper segmentation of the vertebrae, leading to parts of or the entire vertebrae being fused. The adjacent vertebrae fuse...

Torticollis is a common presenting feature of FOP (in about 80%), the head is tilted to one side and there are painful swelling in the...

Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is classic diagnostic feature from birth in more than about 98% of...

Splenomegaly (enlarged spleen) is common in thalassemia major and intermedia due to the high rate of hemolysis (red blood cell destruction). The spleen detects the...

Related family members with elevated HbA2 In carrier screening for the classical beta-thalassemia trait, the hallmark is the presence of an elevated level of HbA2...

Acute pain in extremities, the back, or the belly is caused by vascular occlusion in the blood vessels of the bone or gut. Children with...

Bone and or joint pain in rickets develops progressively once toddlers start standing and walking.

Acute pain in extremities, the back, or the belly is caused by vascular occlusion in the blood vessels of the bone or gut. Children with...

Anemia can be the first feature of sickle cell disease and thalassemia when the disease manifests from about the age of 6 months. This happens...

Anemia as a symptom of Thalassemia major. Children with Thalassemia Major present with anemia around the age of 4-5 months. While the normal total Hb...

Β thalassemia screening by HPLC pattern. When β thalassemia is suspected usually additional tests are performed to confirm the diagnosis. Ultimately it would be best...

When sickle cell disease is suspected by the HPLC pattern usually additional tests are performed to confirm the diagnosis. Ultimately it would be best to...

Metaphyseal (Chondro) Dysplasia in SDS is characterised by short stature, delayed appearance but subsequent normal development of secondary ossification centres. And by variable metaphyseal widening...

Stunted growth may be the revealing symptom in de novo XLH children; noteworthy, growth velocity is always poor at the time of diagnosis in those...

Neutropenia as feature of Shwachman Diamond Syndrome Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the...

Developmental disability in Coffin Lowry syndrome is usually apparent at age 1-2years

Impaired motor function, including fine-motor difficulties, ataxia, abnormality of movement, delayed motor development, and hypotonia. Variable degrees of intellectual disability, The majority of affected individuals...

XLH is inherited in an X-linked dominant manner. This is because the gene responsible for the condition is located on the X chromosome, and having...

The Coffin-Lowry gene (RPS6KA3) is located on the X chromosome (Xp22.2). Girls may express symptoms of CLS. Most of the persons with CLS are the...

Premature loss of primary incisors without preceding root resorption. It has been described that primary incisor showed hypoplastic root cementum in the individual with Coffin...

Delayed exchange of primary teeth by permanent teeth, complicated by multiple impacted permanent and supernumerary teeth combined with severe malocclusion and crossbite, may need treatment...

Failure of eruption of teeth in CCD may need orthodontic treatment

Broad, stubby tapering fingers. Hyper-extensible, soft and fleshy hands with lax skin and joints, and tapering stubby fingers are typical for CLS. These features are...

The NAA 15 gene is located on chromosome nr 4. A mutation causing developmental and intellectual disabilities can be inherited from one of the parents.

Treacher Collins Syndrome has a variable degree of expression. Often Treacher Collins Syndrome is due to a so called new mutation. To distinguish familial occurence...

CCD is an autosomal dominant condition. This means that family members can be affected. Each affected family member will have the same mutation (change in...

Hypoplasia of the facial bones may be the first indicator of Treacher Collins Syndrome (TCS). The cheek (malar or zygomatic) bone is smaller or absent...

In addition to the antimongoloid slanting palpebral fissures in Treacher Collins Syndrome (TCS) the soft tissues surrounding the eye are typically hypoplastic with thin lower...

Auricular abnormalities found included microtia, preauricular appendages, ear lobe and external auditory canal agenesis, anotia, malformed ossicular chains, malformed ossicles and reduced oval window. In...

Mandible Hypoplasia is a common feature of Treacher Collins Syndrome (TCS). The mandible is malformed and the angle can be underdeveloped or totally absent. The...

Large open mouth with thick everted lower lip

Failure to thrive may indicate exocrine pancreatic insufficiency (EPI), a condition that occurs when the pancreas fails to provide the necessary amount of digestive enzymes...

Steatorrhea may indicate pancreas insufficiency which for example occurs in Shwachman Diamond Syndrome and Cystic Fibrosis.

Auricular abnormalities found included microtia, preauricular appendages, ear lobe and external auditory canal agenesis, anotia, malformed ossicular chains, malformed ossicles and reduced oval window. In...