The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. [insights.ovid.com]

[…] frenulum and sublingual caruncles Front prominent nasal Glossy tongue Hypoplastic ala nasi Hypothelia Labial anomalies Low nasal bridge Show images Narrow nose Small ears Velopharyngeal incompetence Genitourinary Hypospadias of the male genitalia Growth Short [datagenno.com]

Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae [xpertdox.com]

[…] ribs Abnormal oral frenulum morphology Neonatal short-limb short stature Disproportionate short stature Epispadias Thoracic dysplasia Abnormality of female internal genitalia Acute leukemia Hypoplastic iliac wing Aplasia/Hypoplasia of the lungs Postaxial [mendelian.co]

The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [ncbi.nlm.nih.gov]

Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae [xpertdox.com]

Affiliated tissues include skin and tongue, and related phenotypes are ptosis and hearing impairment Disease Ontology : 12 An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth [malacards.org]

Signs and symptoms : Common features of this syndrome include brittle, sparse and dry hair with alopecia in adulthood, hypohidrosis (a reduced ability to sweat due to decrease in the number of sweat glands), heat intolerance, dental anomalies, hearing [xpertdox.com]

impairment Hearing impairment Microdontia Short stature Wide nasal bridge Hypospadias Sparse hair Ankyloblepharon Nail dystrophy Abnormality of dental enamel Sparse eyelashes Underdeveloped nasal alae Tics Pili torti Anal atresia Finger syndactyly Oral [mendelian.co]

Some individuals with ectodermal dysplasia, particularly those with EEC syndrome, may have hearing impairment. Structural birth defects may occur in some ectodermal dysplasias. [encyclopedia.com]

The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. [ncbi.nlm.nih.gov]

Bilateral ear discharge at 3 and 6 years old. No other family member is affected. [ashg.org]

The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. [ncbi.nlm.nih.gov]

Babies as well as kids with the condition likewise have extraordinarily sporadic, rugged, wiry scalp hair that is usually shed too soon throughout the adult years (alopecia); abnormally slow-growing, incorrectly established nails (dysplastic); as well [valleyfamilymedicineurgentcarecenter.com]

The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [hypodontia.com]

Topics Zlotogora-Ogur syndrome Ectodermal Dysplasia Pili torti-deafness syndrome Hypohidrosis Hypoplasia of the maxilla Hypodontia Alopecia Entity Handling - dry Hypoplasia Hair Scalp structure Maxilla Autosomal dominant inheritance Microstomia Cleft [q9.placate.us]

fine hair Thin with decreased number of sweat pores [datagenno.com]

The congenital erythroderma in AEC may mimic epidermolysis bullosa (EB) or a collodian baby (skin that resembles a yellow, tight and shiny film) or dried collodion (sausage skin) Hair Sparse, fine hair (hypotrichosis) Can be brittle, coarse or wiry with [nfed.org]

Dermatologic abnormalities include sparse fine hair; dry skin, and unique pigmentary skin changes. Excessive freckling in sun-exposed areas is common and progresses with age and sun exposure. [ncbi.nlm.nih.gov]

The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. [ncbi.nlm.nih.gov]

Symptoms - Rapp-Hodgkin syndrome * Thin skin * Reduced number of sweat pores * Sparse hair * Fine hair * Pili canaliculi * Small nails * Missing teeth * Small teeth * Conical teeth * Low nasal bridge * Narrow nose * Hypoplastic nostrils * Maxillary hypoplasia [checkorphan.org]

skin Ptosis Dystrophic toenail Anodontia Protruding ear Dystrophic fingernails Renal dysplasia Feeding difficulties Abnormal heart morphology Palmoplantar keratoderma Short nose Lacrimal duct atresia Hyperconvex nail Ectrodactyly Hoarse voice Widely [mendelian.co]

Abstract A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and [unboundmedicine.com]

Clinical features include a characteristic facies, i.e. midfacial hypoplasia, narrow nose and microstomia, variable ectodermal defects and cleft lip or palate. It was first described by Rapp and Hodgkin in 1968. [geneskin.org]

Rapp-Hodgkin syndrome An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; [medical-dictionary.thefreedictionary.com]

Abstract An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. [q9.placate.us]

Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [ncbi.nlm.nih.gov]

Results Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid‐face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign. [doi.org]

Complications of Rapp-Hodgkin Syndrome may include: Hyperthermia (elevated body temperature) due to an inability to sweat in hot weather that can lead to life-threatening situations High fever can lead to convulsions (febrile seizures) Hearing loss Hypospadias [dovemed.com]