Webster, Vanessa Lopez-Pajares, Brook Vander Stoep Hunt, Kun Qu, Karen J. Yan, David R. Berk, George L. Sen and Paul A. [doi.org]

Lopez-Pajares, Vanessa; Vander Stoep Hunt, Brook; Qu, Kun; Yan, Karen J.; Berk, David R.; Sen, George L.; Khavari, Paul A. (2012). [en.wikipedia.org]

Hair and nail abnormalities become more apparent as affected individuals grow older. [rarediseases.org]

This autosomal dominant disorder is associated with partial or complete hair loss, absent or dystrophic nails, abnormal dentition, anhidrosis, blocked tear ducts, webbed fingers and toes, superfluous nipples, and ear deformities. 2-4 Newborns with HWS [o-wm.com]

129400) corresponds to a rare form of anhydrotic ectodermal dysplasia. 1 The RHS phenotype variably includes cleft lip/palate, small mouth, narrow nose, coarse and wiry hairs progressing to alopecia in adults, oligodontia or anodontia, hypoplasia of the nails [nature.com]

Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start simple and become more complex as therapy continues. [naturallivingcenter.net]

At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal. [ncbi.nlm.nih.gov]

However, the patient was born with adherent eyelids of the right eye (ankyloblepharon), nasal block, cleft palate, mild cyanosis, and skin sepsis. [jiaomr.in]

spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 5%-29% of people have these symptoms Abnormality of the voice Voice abnormality 0001608 Absent lacrimal punctum 0001092 Clinodactyly of the 5th finger Permanent curving of the pinkie [rarediseases.info.nih.gov]

spaced teeth and inadequate perspiration (partial anhidrosis). [cmaj.ca]

Dental abnormalities are also common and can include one or more missing teeth (hypodontia), widely spaced teeth, and malformed or underdeveloped (hypoplastic) teeth. The lower jaw may also be small and underdeveloped (maxillary hypoplasia). [rarediseases.org]

spaced teeth Occasionally present symptoms in 5-29% of the cases: Abnormality of the voice Absent lacrimal punctum Clinodactyly of the 5th finger Delayed eruption of teeth Finger syndactyly Protruding ear Supernumerary nipple Ventricular septal defect [dovemed.com]

These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. [ncbi.nlm.nih.gov]

Other anomalies are limb changes with syndactyly of fingers and toes most common, hypospadias (males 78%) and trismus (less frequently described). Failure to thrive, growth delay and gastrointestinal issues are also common. [orpha.net]

AEC syndrome include abnormally small ears, a broad bridge of the nose, an abnormally short groove that runs from the top of the upper lip to the nose (philtrum), an abnormally small mouth (microstomia), and the inability to completely open the mouth (trismus [rarediseases.org]

Tuenjai Chuangsuwanich, Prasert Sunsaneevithayakul, Kobkun Muangsomboon and Chanin Limwongse, Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report [doi.org]

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails [ncbi.nlm.nih.gov]

Skin erosions often persist intermittently for many years, evolving into alopecia and cutaneous scarring of the skin. Wound healing appears to be delayed. [orpha.net]

[…] hypoplasia Spaced teeth Skin Anhidrosis Eroded skin at birth from limited to high percentage of body surface area Hyperkeratosis Hyperpigmentation Palmar and plantar keratoderma Patchy partial deficiency of sweat glands Peeling erythematous Sparse to alopecia [datagenno.com]

[…] trait is transmitted in an autosomal dominant fashion with variable expressivity, although many sporadic cases have been described. 2, 3 In addition to the classic triad of congenital anomalies, affected individuals may demonstrate varying degrees of alopecia [jamanetwork.com]

Examination of her scalp revealed alopecia with crusting, erythema and scaling ( Fig. 1 ). Her fingernails and toenails were abnormally formed ( Fig. 2 ). [cmaj.ca]

eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Submucous cleft hard palate 0000176 Submucous cleft soft palate 0011819 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [rarediseases.info.nih.gov]

eyebrow Sparse eyelashes Submucous cleft hard palate Submucous cleft soft palate Widely spaced teeth Occasionally present symptoms in 5-29% of the cases: Abnormality of the voice Absent lacrimal punctum Clinodactyly of the 5th finger Delayed eruption [dovemed.com]

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]

References Cardiovascular Abnormalities of septum Craniofacial Ankyloblepharon filiforme adnatum Broadened nasal bridge Cupshaped auricles Oval face Genitourinary Hypospadias of the male genitalia Micropenis Vaginal dryness or erosions Wilms tumor Hearing [datagenno.com]

dryness 0031088 Showing of 53 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

dryness Based on the frequency of symptoms observed, the following information may be noted: Very frequently present symptoms in 80-99% of the cases: Ankyloblepharon Coarse hair Conductive hearing impairment Dystrophic fingernails Dystrophic toenail [dovemed.com]