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It is a rare congenital syndrome that presents with hearing loss, fair skin and very light coloured hair. This syndrome is also known as: Albinism – deafness Albinism-deafness Of Tietz Hypopigmentation/deafness Of Tietz Tietz Albinism-deafness Syndrome Tietz syndrome Waardenburg syndrome type 2 – ocular albinism
The main features are triphalangeal thumbs, an imperforate anus, overfolded helices to the ears, sensorineural deafness and pes planus. Preauricular pits or tags may be present, as may a conductive component to the deafness. Minor radiological features such as pseudoepiphyses of the metacarpals, an absent triquetrum and fused metatarsals have been reported. Renal anomalies have been documented including renal hypoplasia, unilateral renal agenesis, posterior urethral valves, vesicoureteric reflux and meatal stenosis (reviewed by Newman et al., 1997). Renal failure might be an under recognized phenomenon (Reardon et al., 2007). Marlin et al., (1998) reported two cases, one with growth retardation and delayed puberty, and the other with vertebral anomalies consisting of cervical vertebral fusion as well as fusion between D12 and L1, and L3 and L4. Severe swallowing and breathing problems can occur (van Bever et al., 2009). Serville et al., (1993) reported a male with features of the condition who had a balanced 5;16 translocation (p15.3;q12.1). Unfortunately the parents were unavailable for chromosome studies. Johnson et al., (1996) reported a family where the proband had classical features of Townes-Brocks syndrome, but his mother and maternal grandmother had additional features including facial asymmetry, macrostomia, and epibulbar dermoids that suggested Goldenhar syndrome. The grandmother also had a bifid right toe. The grandmother also had urethral stenosis and a septate uterus. In the Albrecht et al., (2004) family there was also considerable intrafamilial variability (all had a novel SALL1 mutation). There were no anal or thumb manifestations, although the ears were typical. Two of the 3 had impaired renal function. A patient (with a mutation) reported by van den Akker et al., (2009) had in addition a Duane anomaly. The condition can be mimicked by a partial trisomy 22 (see for example Levonton et al., 1980). The case with limb asymmetry reported by Ishikiriyama et al., (1996) could well have mosaicism as skin chromosomes were not examined.Occasional families with autosomal dominant form of isolated anal stenosis have also been reported (Landau et al., 1997). GENETICS Kohlhase et al., (1998) reported mutations causing premature stop codons of the SALL1 gene in a dominant family and an isolated case. The SALL1 gene codes for a protein homologous to a drosophila developmental regulator. The SALL1 gene codes for a transcriptional repressor, which interacts with TRF1-PIN2 and localizes to pericentromeric heterochromatin (Netzer et al., (2003). Further mutations were reported by Kohlhase et al., (1999) and Blanck et al., (2000). Kiefer et al., (2003) showed that the mutations result in a truncated protein and act in a dominant negative or gain of function manner. Kohlhase et al., (2003) point out that the Arg276X mutation had been demonstrated in approximately 50% of sporadic cases with detectable SALL1 mutations but, up to that point, had not been observed familial cases. The absence of the mutation in familial cases with SALL1 mutations had raised the question of whether the Arg276X mutation results in infertility. However they reported a mother and daughter with a Arg276X mutation. Devriendt et al., (2002) reported a case where the father just had 3-4 toe syndactyly. He was found to have a mosaic SALL1 mutation in fibroblasts and buccal smear. Engels et al., (2000) reported a patient with a SALL1 mutation where there was phenotypic overlap with branchio-oto-renal (BOR) syndrome. Surka et al., (2001) reported a mutation proven family where there were unusual cardiac abnormalities including truncus arteriosus, and a lethal complicated cardiac defect including pulmonary valve stenosis. Keegan et al., (2001) studied eight patients with features of hemifacial microsomia, but with anal anomalies. They found a SALL1 mutation in one patient. This patient had bilateral microtia, facial asymmetry, bilateral duplicated thumbs, 1-2 syndactyly of the left foot; 4-5 syndactyly of the right foot with a cleft between the 1st and 2nd digits, hypospadias and an anal tag. Powell and Michaelis (1999) provide a good review of the clinical and molecular features.Kosaki et al., (2007) reported a family in which one member had the Towns-Brooks phenotype, whereas her sister had features of Goldenhar including an epibulbar dermoid. Both had SALL1 mutations. A remarkable, probably multigenerational family, reported by Al-Qattan et al., (2012) had an initial diagnosis of Townes-Brocks syndrome because of triphalageal thums, thumb aplasia, polydactyly, radial ray aplasia and unilateral renal agenesis. ZRS mutations – this is the long-range regulator, was found. – see under “chromosome 7q36.3 – microdeletion” Syndrome Synonyms Anus, Imperforate, With Hand, Foot, And Ear Anomalies Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies Rear Syndrome Renal-ear-anal-radial Syndrome TBS Townes-Brocks syndrome
Treacher Collins is a genetic disorder that occurs in around 1 in every 50,000 births., making it a rare disease. Symptoms may vary considerably between individuals but the condition mainly affects the development of bones and tissue in the face. This syndrome is also known as: Franceschetti syndrome Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive MFD1 TCS
Trichorhinophalangeal syndrome is a very rare, inherited genetic syndrome that affects multiple parts of the body. The main features and symptoms of the syndrome are craniofacial and skeletal abnormalities. Syndrome Synonyms: Trps I TRPS1 TRPS3
Also known as Edwards syndrome, it is a rare chromosomal syndrome that presents with anomalies and symptoms that affect many parts of the body. Due to the severity of symptoms many infants with the condition die before birth or in the first month of life. The 5-10% of children who survive the first year have severe intellectual disability. The risk of having a child with the syndrome increases with the age of the mother. This syndrome is also known as: Edward’s syndrome Hyp Hypophosphatemia, X-linked; Xlh Hypophosphatemic Vitamin D-resistant Rickets; Hpdr Vitamin D-resistant Rickets, X-linked
Turner syndrome affects only females. 1 in every 2,000 females born is diagnosed with the syndrome. This rare disease is characterized by a short stature, heart defects and a failure of the reproductive organs, specifically the ovaries to develop. In some instances the syndrome is not diagnosed until puberty when these symptoms become apparent. Syndrome Synonyms: Visuospatial/perceptual Abilities; Vspa
It is a very rare genetic syndrome. The two main features of this syndrome are what is referred to as an unusual facial expression and uropathy-which is a disorder of the urinary tract. It is also sometimes referred to as Ochoa syndrome. More than 150 cases of the syndrome have currently been recognized. The majority of these cases have been reported from Columbia but the syndrome has also been diagnosed in individuals from a broad range of countries including the US, UK, Kuwait, Denmark and Spain. It is believed that there is a degree of underdiagnosis with Ochoa syndrome. And the actual figures should be higher. Syndrome Synonyms: Facial Palsy, Partial, With Urinary Abnormalities Hydronephrosis With Peculiar Facial Expression Inverted Smile And Occult Neuropathic Bladder Ochoa Syndrome Urofacial Syndrome; Ufs
It is a rare genetic syndrome, present at birth, and associated with unique facial features and skeletal anomalies. There have been 40 cases of the syndrome reported worldwide so far. Little is still known about how the condition progresses in affected individuals with age. This syndrome is also known as: Blepharophimosis, Arachnodactyly, And Congenital Contractures Marden-walker-like Syndrome Without Psychomotor Retardation VDEGS
Waardenburg is a group of rare genetic disorders that occurs in around 1 in every 40,000 births. The syndrome is made up of four genetic disorders, named Type 1-4. Type 1 and 2 are the most common, while type 3 usually causes the most severe symptoms. Auditory and pigmentary (relating to the skin) abnormalities are the main characteristics of the syndrome. However symptoms of this rare disease may vary considerably between individuals. Syndrome Synonyms: Waardenburg syndrome type 2 Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb WS1 WS2