Table 1.

Clinical features of Goltz–Gorlin Syndrome: overview of the literature.

Head and neck	Respiratory	Chest	Abdominal	Genito-urinary	Skeletal	Skin, nails, hair	Neurological, eyes and, ears
Head Microcephaly Face Facial asymmetry Pointed chin Nose Narrow nasal bridge Broad nasal tip Notched nasal alae Mouth Lips papillomas Cleft lip Cleft palate Teeth Hypodontia Oligodontia Enamel hypoplasia Delayed eruption Malocclusion Notched incisors Odontogenic keratocysts Gingivas papillomas	Nose Papillomatosis Larynx Papillomatosis Pharynx Papillomatosis Trachea Papillomatosis	Ribs, Clavicles Midclavicular aplasia Midclavicular hypoplasia Rib hypoplasia Breasts Asymmetric breast Supernumerary nipples Nipple hypoplasia Asymmetric nipples Diaphragm Diaphragmatic hernia	External Features Umbilical hernia Omphalocele Diastasis recti Gastrointestinal Hiatus hernia Gastroesophageal reflux Gastroparesis Constipation Anteriorly displaced anus Intestinal malrotation Esophageal papillomas Stomach papillomas	External Genitalia (Male) Inguinal hernia External Genitalia (Female) Clitoral hypoplasia Labial hypoplasia Internal Genitalia (Male) Cryptorchidism Internal Genitalia (Female) Bicornuate uterus Kidneys Horseshoe or fused kidney Hydronephrosis Absent kidney Hypoplastic kidney Cystic renal dysplasia Ureters Bifid ureter Perineum Short perineum body	Skull Asymmetric skull Spine Scoliosis Spina bifida occulta Pelvis Failure of pubic bone fusion Congenital hip dislocation Limbs Osteopathia striata Hands Short phalanges Short metacarpal Feet Short metatarsal Hypoplastic digits Missing toes Fingers Ectrodactyly Syndactyly Brachydactyly Polydactyly	Skin Linear or reticular hyperpigmentation Skin atrophy Telangiectasia Localized cutaneous deposits of superficial fat Arborescent papillomas Hypoplastic fingertip epidermal ridges Hidrocystomas Nails Dystrophic nails (spooned, grooves) Micronychia Absent fingernails Absent toenails Hair Sparse hair Brittle hair Patchy alopecia	Central Nervous System Mental retardation Myelomeningocele Hydrocephalus Agenesis of corpus callosum Arnold-Chiari malformation Eyes Iris coloboma Choroidoretinal coloboma Aniridia Microphthalmia Anophthalmia Ectopia lentis Optic atrophy Nystagmus Strabismus Decreased visual acuity Eyelid papillomas Ears Low-set ears Narrow auditory canals Hearing loss, mixed