Syndrome TRICHO RHINO PHALANGIEN

Trichorhinophalangeal Syndrome Survey

3 types Type I – Triade : Hair abnormalities + Cranio-Facial + Skeletal Type II – Triade : Abnormalities listed above + Exostose Type III – Severe Brachydactyly + Delayed Growth

Gene TRPS1 : Rule for the making of a transcription (on chromosome 8q24)

Type I : Nonsense mutation or complete deletion of a gene (> 30 mutations)  Families : (insertional mutation) change to the position of the gene 2480 ==> premature signal stop.  Sporadic : Deletion of a base from position 2110 ==> premature check to the joint 766 (in these cases size and shape are normal)

Type II : Deletion of the TRPS1 gene + Mutation of the exostose gene multiple type I (EXT1)

Type III : Missense mutation in protein compliant with the DNA

In 50 of cases there exists alterations to the standard level of Hip=Perthes-like

CHARACTERISTICS OF EACH TYPE TYPE I  Autosomal dominant  Delay or slowness of growth  « Receded triangular medio-occipital hairline »  Case of true twins : small stature up to 13 years, then acceleration promotion in bone age at puberty – the same had difficulty sleeping, only 1 had Perthes like hips  1 family described some bony protuberances  Late dental growth – Pectus carinatum (protruding chest)– Scolioses (curved spine) – Ovarian cysts  Clinical brachydactyly of hands and feet

TYPE II  Rare family cases  Incomplete penetration  Delayed growth  Mental slowness  EXOSTOSES EXT1 : gene located closer to one end of chromosome 8 than TRPS therefore EXT lis distal to TRPSl. TRPS II only develops if both TRPS l and EXT l are missing from one chromosome.  Excess skin « redundant skin »  Axial deviation of the larger joints of the lower limbs  Learning difficulties, due to being micro cephalous  1 case of palatine cleft gap under mucous

TYPE III  Autosomal dominant  Delayed growth  Normal intelligence  Severe brachydactyl (all the bones of the hands and feet)  No exostosis

COLLECTION OF DATA

1 – General Information

 Name :  Sex :  Date of Birth : o Place of birth (Hospital/Home) : . Town : o Country/State : . Country :

 Date of Diagnosis :  Confirmation of Diagnosis : o By Whom : o Location : o Result ? Type I, Type II (LGS) or Type III ? :

2 – ATCD Families

 Situation regarding the parents of a TRPS child/adult : o Married or living with partner o Deceased (specify if one or both) o Separated o Gardian or relationship to child

 Position in the family :  History of miscarried pregnancies in the family :

 Brothers and Sisters of patient (siblings) : N°1 N°2 N°3 N°4 N°5 Date of birth Sex Height Any known unusual Pathology Occupation or profession Physical resemblance Small or abnormal hands Any consultations with a dermatologist

Sparse or fine hair Comments on the above preceding relatives : o N°1 o N°2 o N°3 o N°4 o N°5

 Patient’s children : N°1 N°2 N°3 N°4 N°5 Date of birth Sex Height Any known or unusual Pathology or major health problems Occupation or profession Physical resemblances or likeness Small/unusual hands Any consultations with a dermatologist

Fine or sparse hair Comments on the above preceding children : o N°1 o N°2 o N°3 o N°4 o N°5 o  Patient’s Parents : FATHER MOTHER Age Height School/University Profession or occupation Known peculiar pathology or Major health problems Any known consultations with a dermatologist ? Has/has he or she sparse or fine hair, early balding ? Is/was there a physical resemblance to the patient ? Small or crooked hands Any walking problems – precise cause *Comments/remarks about parents : FATHER :

MOTHER :

3 – ATCD personal History – (please complete additional forms when applying to more than one child in the family who has TRPS)

Eldest child/person with TRPS :  Pregnancy o Normal o Problems (specify) : o Was amniocentesis carried out : o Amniocentesis arranged or done by whom : o At how many weeks of pregnancy : o At what point in the pregnancy (weeks/days) : o Period of Amenorrhea (time of missing menstrual period) :

 Confinement : o Method of delivery –Normal/Vaginal delivery o Forceps/Instrument assistance o Caesarean-Section (arranged by ?) o Any further observations regarding delivery ?

 BABY’S HISTORY : o Measurement at birth : o Length (cm) : o Weight (grams), or provide pounds/oz : o Head girth (around the cranium) (cm) :

 Problems at birth : o Neo-natal resuscitation : o Stay in an Incubator : How long ? Further comments ? : o Observations from Infant APGAR Score Chart: o At 1 minute o At 5 minutes  Development Chart Height/Weight : (if possible, please send a copy of the growth curve)

Age Height Weight 3 months 6 months 9 months 1 year 2 years 3 years 4 years  Age at which walking began: Difficulties with walking ? o At what age were there problems: o Exact nature of the problem :

 Age at which speaking began : Difficulties/problems with comprehension ? : Difficulties/problems with expression ? :

 Dental Growth : o 1st tooth at the age of : o All teeth complete at the age of : o  Schooling : o Normal School or Special School (please circle answer) . What were primary classes : . The precise structure – from what age given : . Any special or unusual education, training or remedial help given?  Current work : Profession/Occupation

4 – DIAGNOSTIC  Diagnosis made at the age of:  C linical : o Radiological/X-Rays/Scans, etc. o Genetic testing :  What were the factors which led to this diagnosis being made?

5 – Clinical Aspect

 Current age with measurements o Weight: o Height :

 Superficial body growths : o Hair: o Thick dense ends o Thin or bushy o Brittle or breakable o Slow or normal growth o Falling out easily – normal length or long o Receding into frontal hairline o High hairline/thin hair/no hair at the back o o Eyelashes – sparse or missing o Eyebrows – sparse or missing o Armpits – hair normal, sparse or missing o Pubic Hair – normal, sparse or missing o Beard – normal, sparse or missing o Temples – Hairy, thin or bald o Nails – o Slow growth or normal o Brittle or breakable o White spots o Racket shaped

 Head: o Normal/Large/Small o Aspects of the face : o Nose : . Base : Large or slim . Point (end of nose: Large/bulbous or small . Small . Cartilage : Hard or soft . Philtrum (skin between the lower part of the 2 nostrils and joining the Median part of the lip)

o Any abnormalities of Lips: . Upper: Thin Fleshy Average . Lower: Thin Fleshy Average

o Anomaly of the Palate : . Cleft/gap or other, please specify : o Chin : (presence of furrow or ‘dent’) . Vertical : . Horizontal : o Ears : . Small Large . Low placement Normal placement . If malformed, please specify:

 Trunk: o Form of the chest : . Concave : Convex: . Pectus Carinatum : Pectus Excavatum:

 Upper Limbs : o Hands: Small Large o Fingers: . Long Short . Straight Crooked . If bent, which side:  Side of the thumb  Side of little finger  Index finger  Ring finger o Joints of the small bones of a digit : . Nearest : Normal Swollen . Furthest :Normal Swollen o Mobility : o Wrists : Normal Limited Painful o Fingers : Normal Limited Painful o Elbows : Normal Limited Painful o Shoulders : Normal Limited Painful o Reach of the upper limbs, symmetrical, if not specify o o Please report on any other unusual aspects of upper limbs :

. LOWER LIMBS : o Walking/feet : . Normal Painful Limited o Mobility of : . Hips: Normal Limited Painful . Knees: Normal Limited Painful . Ankles: Normal Limited Painful . Toes: Normal Limited Painful o Toes : . Long or Short . Bent (how many are bent ?):  Towards the outside  Towards the inside  « Big Toe »/Largest/First Metatarsal : (short/long/bent)  Spinal Column : o Scoliosis (bent spine) o Other malformation – please specify :

 Other associated Pathologies: o Cardiac/heart problem : o Renal/kidney problem : o Other conditions (digestive, gallstone, kidney-stone, gut/IBS, ect) :

6 – Additional Clinical Examinations

 Radiography: XRays, CT Scans, MRI Scans – send medical report if possible : o Hands o Pelvis o Hips o Knees o Feet o Others

 Bone-Age: o Date of examination o Dexa Scans for bone density o Results

7 – Further Comments, Remarks & Observations :