Format

Send to:

Choose Destination

Links from PubMed

Hay-Wells syndrome of ectodermal dysplasia

MedGen UID:
98032
Concept ID:
C0406709
Congenital Abnormality
Synonyms: AEC syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate; Hay-Wells syndrome; TP63-Related Disorders
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Hay-Wells syndrome (55821006); AEC - Ankyloblepharon, ectodermal defects, cleft lip and palate (55821006); Ankyloblepharon, ectodermal defects, cleft lip and palate (55821006); Hay Wells syndrome of ectodermal dysplasia (55821006); Hay-Wells syndrome of ectodermal dysplasia (55821006); Ankyloblepharon-ectodermal dysplasia-clefting syndrome (55821006); AEC syndrome (55821006)
 
Gene (location): TP63 (3q28)
OMIM®: 106260

Disease characteristics

Excerpted from the GeneReview: TP63-Related Disorders
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (subjective hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring and alopecia, hypospadias, trismus, and excessive freckling. [from GeneReviews]
Authors:
V Reid Sutton  |  Hans van Bokhoven   view full author information

Additional description

From GHR
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.Among the most common features of AEC syndrome are missing patches of skin (erosions). In affected infants, skin erosions most commonly occur on the scalp. They tend to recur throughout childhood and into adulthood, frequently affecting the scalp, neck, hands, and feet. The skin erosions range from mild to severe and can lead to infection, scarring, and hair loss. Other ectodermal abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, or missing hair; misshapen or absent fingernails and toenails; and malformed or missing teeth. Affected individuals also report increased sensitivity to heat and a reduced ability to sweat.Many infants with AEC syndrome are born with an eyelid condition known as ankyloblepharon filiforme adnatum, in which strands of tissue partially or completely fuse the upper and lower eyelids. Most people with AEC syndrome are also born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult for affected infants to suck, so these infants often have trouble feeding and do not grow and gain weight at the expected rate (failure to thrive).Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less often, affected individuals have permanently bent fingers and toes (camptodactyly) or a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). Hearing loss is common, occurring in more than 90 percent of children with AEC syndrome. Some affected individuals have distinctive facial features, such as small jaws that cannot open fully and a narrow space between the upper lip and nose (philtrum). Other signs and symptoms can include the opening of the urethra on the underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, and chronic sinus or ear infections.A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of AEC syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum.  http://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome

Clinical features

Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002).
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Anatomical Abnormality
Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.
Blepharitis
MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Inflammation of the eyelids.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Lacrimation abnormality
MedGen UID:
867427
Concept ID:
C4021801
Anatomical Abnormality
Abnormality of tear production.
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Location of the urethral opening on the inferior aspect of the penis.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Conductive hearing loss
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Simple ear
MedGen UID:
140913
Concept ID:
C0431483
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Atresia of the external auditory canal
MedGen UID:
235602
Concept ID:
C1398325
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Congenital anomaly of nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system that is present at birth or detected in the neonatal period.
Blepharitis
MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Inflammation of the eyelids.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Anatomical Abnormality
Any abnormality of the voice.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Blepharitis
MedGen UID:
598
Concept ID:
C0005741
Disease or Syndrome
Inflammation of the eyelids.
Cleft lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Abnormally small jaw.
Tooth malformation
MedGen UID:
11849
Concept ID:
C0040427
Congenital Abnormality
Congenital absence of or defects in structures of the teeth.
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Peg-shaped teeth
MedGen UID:
82730
Concept ID:
C0266037
Congenital Abnormality
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Ankyloblepharon
MedGen UID:
83282
Concept ID:
C0339182
Anatomical Abnormality
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Atresia of nasolacrimal duct
MedGen UID:
576318
Concept ID:
C0344511
Congenital Abnormality
A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
Broad flat nasal bridge
MedGen UID:
326959
Concept ID:
C1839764
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Finding
Lack of eyelashes.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Absence or underdevelopment of the eyebrow.
Oval face
MedGen UID:
336480
Concept ID:
C1849025
Finding
A face with a rounded and slightly elongated outline.
Selective tooth agenesis
MedGen UID:
370882
Concept ID:
C1970308
Finding
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Non-midline cleft lip
MedGen UID:
866673
Concept ID:
C4021020
Congenital Abnormality
Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Reduced number of teeth
MedGen UID:
869773
Concept ID:
C4024202
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Abnormality of the palpebral fissures
MedGen UID:
870308
Concept ID:
C4024750
Anatomical Abnormality
An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Abnormality of the nose
MedGen UID:
871364
Concept ID:
C4025859
Anatomical Abnormality
An abnormality of the nose.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Anhidrosis
MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
Inability to sweat.
Hyphidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Hyperpigmentation
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Dystrophia unguium
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Anonychia
MedGen UID:
120563
Concept ID:
C0265998
Congenital Abnormality
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Thick hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Hyperconvex nail
MedGen UID:
488894
Concept ID:
C0423807
Finding
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Finding
Lack of eyelashes.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Absence or underdevelopment of the eyebrow.
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Abnormality of the toenails
MedGen UID:
825598
Concept ID:
C3839753
Finding
An anomaly of the toenail.
Abnormality of the fingernails
MedGen UID:
867411
Concept ID:
C4021782
Anatomical Abnormality
An abnormality of the fingernails.
Abnormal hair quantity
MedGen UID:
868983
Concept ID:
C4023397
Anatomical Abnormality
An abnormal amount of hair.
Generalized hyperpigmentation
MedGen UID:
870432
Concept ID:
C4024878
Finding
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.

Recent clinical studies

Diagnosis

Kulkarni ML, Deshmukh S, Matani D, Gayatri K
Indian J Pediatr 2006 Jan;73(1):101. PMID: 16444073

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...