107 Tricho-rhino-phalangeal Syndrome, Type I

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107 Tricho-rhino-phalangeal Syndrome, Type I

Tricho-rhino-phalangeal Syndrome, Type I 915

TRPS1, tricho-rhino-phalangeal dysplasia, Giedion syndrome

Brachydactyly with cone-shaped epiphyses, sparse brittle hair of ﬁne texture, pear-shaped nose with lack of alar ﬂare, long philtrum, thin upper lip, variably short stature

Frequency: Rare (more than 100 documented cas- es).

Genetics

Autosomal dominant (OMIM 190350), with variable clinical expressivity; caused by deletion or point mu- tation of the TRPS1 gene, which is located on chro- mosome 8q24.12 and encodes a zinc-ﬁnger tran- scription factor.

Clinical Features

• Short stature (below third percentile in 40%)

• High forehead

• Sparse, ﬁne, brittle scalp hair, slow-growing hair, premature balding; sparse lashes and eyebrows laterally

• Midface hypoplasia

• Prominent pear-shaped nose with bulbous end;

long philtrum; retropositioned alae

• Thin upper lip

• Occasionally, supernumerary teeth and malocclu- sion

• Horizontal groove on chin, micrognathia

• Large, sticking-out ears

• Pectus carinatum, winging scapulae

• Kyphoscoliosis

• Brachydactyly, deformed ﬁngers with swollen proximal interphalangeal joints and axial devia- tion of digits (clinobrachydactyly)

• Cutis laxa, occasionally thin and fragile nails

• Muscular hypotonia

• Mental development usually normal

Differential Diagnosis

• Tricho-rhino-phalangeal dysplasia type 2 (Langer-Giedion)

• Cartilage-hair hypoplasia

Radiographic Features Hands and Feet

• Shortening of one or more phalanges and/or metacarpals (especially 4th and 5th)

• Broad middle phalangeal joints with cone-shaped epiphyses (type 12) (early childhood)

• Premature epiphyseal fusion and ivory epiphyses in distal phalanges

• Partial syndactyly

• Pes planus Pelvis

• Small capital femoral epiphyses, sometimes asso- ciated with Perthes-like changes in childhood (50%)

• Coxa plana, coxa magna

• Degenerative hip changes in young adults

• Acetabular roof hypoplasia Limbs

• Flattened distal femoral epiphyses

• Radial head hypoplasia/dislocation, short ulna

• Absent patella Thorax

• Winged scapulae

• Pectus carinatum (40%) Skull

• Midface hypoplasia

• Micrognathia, obtuse gonial angle

• Craniosynostosis Spine

• Kyphoscoliosis

Generalized Skeletal Abnormalities

• Markedly delayed bone age Joints

• Degenerative arthritis in hips, knees, elbows, sacroiliac joints, and spine

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Fig. 107.1 a, b. Patient 1, age 12 years. a High forehead, sparse scalp hair and lashes, bulbous and sharp nose, and horizontal groove on chin; b brachydactyly and de- formed ﬁngers at interphalangeal joints. c Patient 2, mother of pa- tient 1. Sparse lashes and eyebrows, pear-shaped nose, prominent philtrum, thin upper lip, and horizontal groove on chin

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b

c

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Fig. 107.2. Patient 3, age 4 years.

The proximal femoral epiphyses show changes reminiscent of Perthes disease (ﬂattening, sclero- sis, fragmentation). (Reprinted, with permission, from Canepa et al. 1996)

Fig. 107.3. aPatient 4, age 10 years and 2 months; b patient 5, age 6 years and 3 months; c patient 6, age 14 years; d patient 7, age 18 years. Note mesophalangeal type-12 cones, ivory epiphyses, and a rare broken-off epiphyseal tongue in c. (From Giedion 1998)

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c d

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Bibliography

Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorﬁche e malattie costituzionali dello scheletro. Piccin, Padova, 1996

Dunbar JD, Sussman MD, Aiona MD. Hip pathology in the trichorhinophalangeal syndrome. J Pediatr Orthop 1995; 15:

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Frias JL. Variable expressivity in the trichorhinophalangeal syndrome type 1. Birth Defects Orig Artic Ser 1979; 15:

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their natural history, diagnostic sensitivity, and speciﬁcity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. Pediatr Radiol 1998; 28: 751–8 Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V. Autosomal

dominant transmission of the tricho-rhino-phalangeal syndrome: report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta 1973; 28: 249–59

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