Table 4.

Disorders of Interest in the Differential Diagnosis of Trichorhinophalangeal Syndrome

Gene / Genetic MechanismDisorderMOIFeatures of Disorder:
Overlapping w/TRPSDistinguishing from TRPS
DYNC2H1
DYNC2LI1
EVC
EVC2
GLI
PRKACA
PRKACB
SMO
WDR35 		Ellis-van Creveld syndrome AR
AD 1
  • Short stature
  • Brachydactyly
  • Nasal shape
  • Oral frenula
  • Polydactyly
EXT1
EXT2 		Hereditary multiple osteochondromas ADMultiple osteochondromas
  • Absence of ID
  • Absence of characteristic craniofacial & digital anomalies assoc w/TRPS II.
FBN1 Acromicric dysplasia (OMIM 102370)AD
  • Short stature
  • Brachydactyly
  • Cone-shaped epiphyses
  • Round face
  • Long eyelashes
  • Anteverted nostrils
  • Thickened skin
  • Absence of sparse hair
GJA1 Oculodentodigital syndrome (OMIM 164200 & 257850)AD
AR
  • Slow-growing, dry hair
  • Underdeveloped alae nasi
  • Long philtrum
  • Ocular manifestations
  • Distinct dental anomalies: enamel hypoplasia, tooth agenesis, microdontia
GNAS Pseudohypoparathyroidism (See Disorders of GNAS Inactivation.)AD
  • Short stature
  • Brachydactyly
  • Cone-shaped epiphyses
  • ID
  • Ectopic ossifications
  • ↑ serum PTH level, hypocalcemia, hyperphosphatemia
POC1A Short stature, onychodysplasia, facial dysmorphism, & hypotrichosis (SOFT) syndrome (OMIM 614813)AR
  • Short stature
  • Brachydactyly
  • Prominent nose
  • Cone-shaped epiphyses
  • Sparse hair
  • Dental anomalies
  • Intrauterine growth restriction
  • Long, triangular face
PPP2R3C Myoectodermal gonadal dysgenesis syndrome (OMIM 618419)AR
  • Short stature
  • Thick eyebrows
  • Large nose
  • Hypoplastic alae nasi
  • Long philtrum
  • Prominent ears
  • Gonadal dysgenesis
  • Wide nasal bridge
RMRP Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders AR
  • Fine hair
  • Cone-shaped epiphyses
  • Short stature
  • Nasal shape
  • Immunodeficiency

AD = autosomal dominant; AR = autosomal recessive; ID = intellectual disability; MOI = mode of inheritance; PTH = parathyroid hormone; TRPS = trichorhinophalangeal syndrome

1.

Ellis-van Creveld (EVC) syndrome caused by pathogenic variants in DYNC2H1, DYNC2LI1, EVC, EVC2, GLI, SMO, or WDR35 is inherited in an autosomal recessive manner. EVC syndrome caused by pathogenic variants in PRKACA or PRKACB (accounting for 2% of affected individuals) is inherited in an autosomal dominant manner.

From: Trichorhinophalangeal Syndrome

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