Syndromes Flashcards
Difficulty hearing, menorrhagia, macrothrombocytopaenia
Konigsmark syndrome
- due to mutation in DIAPH1 gene on chromosome 5q31
- a/w macrothrombocytopaenia but often no clinical features of thrombocytopenia
Mutation in DIAPH1 gene?
Konigsmark syndrome (chromosome 5q31)
Progressive hearing loss and multiple presentations with recurrent fever, joint pain, conjunctivitis and urticarial rash
Muckle-Wells syndrome
- has overlap with familial cold auto inflammatory syndrome and NOMID/CINCA (neonatal onset multisystem inflammatory disease/chronic infantile neurological, cutaneous and articular syndrome)
Sensorineural hearing loss, limited adduction of right eye
Duane syndrome
- eye signs can occur in isolation but 30# have extra-ocular problems such as SNHL
- may have a deep set eye, or narrowing of the palpebral fissure
Bilateral non-progressive SNHL (severe and profound), goitre with occasional hypothyroidism, dilation of vestibular aqueduct bilaterally +/- cochlear hypoplasia
Pendred syndrome (AR)
Congenital bilateral SNHL, retinitis pigmentosa leading to gradual visual loss, variable vestibular impairment
Usher syndrome (AR) - three subtypes depending on genes affected
Type I: MY07A, USH1C, CDH23, PCHD15, USH1G
Type II: USH2A, GPR98, WHRN
Type III: CLRN1
Mutations in KCNE1 gene and KCNQ1 gene
Lange-Niele syndrome (AR)
Abnormal ventricular depolarisation and long QT syndrome, congenital deafness
Lange-Niele syndrome
- congenital deafness due to abnormal endolymph production in the cochlea
Combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung disease
Haddad syndrome
- CCHS means suboptimal response to hypoxia and hypercarbia (caution with swimming)
Syndrome associated with “windswept” deformity
Pseudoachondroplasia - can have genu valgus, genu varum, or “windswept” deformity where one leg is turned out and the other is turned in
6 month old with failure to thrive, history of foul oily stools, FBC shows significant neutropenia
Schwachman-Diamond syndrome
- biallelic defects in SBDS gene
- protein of this gene is involved in ribosome biogenesis and mitosis
Biallelic defects in SBDS gene
Schwachman-Diamond syndrome
Mutation in CHD7 gene
CHARGE syndrome
Keyhole shaped abnormality of the eye, abnormal ear development, failed newborn hearing test?
CHARGE syndrome
VACTERL association
Vertebral defects, Cardiac defects, Tracheo-oesophageal defects, Renal anomalies and Limb abnormalities
22q11.1 deletion
DiGeorge/velocardiofacial syndrome
- cardiac defects, poor immune system function, cleft palate, hypocalcaemia and developmental delay
Microdeletion syndrome of chromosome 16
Rubenstein-Taybi syndrome
Short stature, moderate to severe ID, dysmorphism and broad thumbs/first toes
Rubenstein-Taybi syndrome
- microdeletion of chromosome 16
Hereditary sensorineural hearing loss, no other abnormalities
Connexian 26 mutations (80% AR)
SCN1A gene
Gene that makes sodium channels
Associated with Dravet syndrome
DEPDC5 gene
Gene responsible for modulating mTOR pathway
Results in familial focal epilepsy
KCNQ2 gene
Encodes a potassium channel
Common cause of benign familial neonatal epilepsy, but can also present with epileptic encephalopathy (i.e. can cause a spectrum of presentations)
Delayed puberty, anosmia, pre-pubertal levels of LH, FSH and testosterone
Kallmann syndrome
- hypogonadotrophic hypogonadism and anosmia
- can also have micropenis, undescended testes, midline facial defects and congenital solitary kidney
Peripheral precocious puberty with fibrous dysplasia of bone, cafe au lait macules
McCune-Albright syndrome
- cafe au lait macules (“coast of Maine”)
Syndrome caused by somatic mutation in the G protein that stimulates cyclic AMP?
McCune-Albright syndrome
