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Absent nipple

MedGen UID:
98418
Concept ID:
C0425795
Finding
Synonyms: Absent nipples; Athelia
SNOMED CT: Absent nipple (248820000)
 
HPO: HP:0002561

Definition

Congenital failure to develop, and absence of, the nipple. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent nipple

Conditions with this feature

Hypohidrotic X-linked ectodermal dysplasia
MedGen UID:
57890
Concept ID:
C0162359
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.
Congenital absence of nipple
MedGen UID:
64223
Concept ID:
C0175755
Congenital Abnormality
Aplasia or hypoplasia of breasts and/or nipples
MedGen UID:
98489
Concept ID:
C0432357
Congenital Abnormality
Absence of one or both mammary glands.
Ectodermal dysplasia trichoodontoonychial type
MedGen UID:
338798
Concept ID:
C1851858
Disease or Syndrome
Yunis Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Acrorenal mandibular syndrome
MedGen UID:
395425
Concept ID:
C1860166
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
Amastia, bilateral, with ureteral triplication and dysmorphism
MedGen UID:
354882
Concept ID:
C1863015
Disease or Syndrome
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
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.
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
MedGen UID:
761671
Concept ID:
C3539920
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100.
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant
MedGen UID:
762105
Concept ID:
C3541517
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100.
Breasts and/or nipples, aplasia or hypoplasia of, 2
MedGen UID:
863355
Concept ID:
C4014918
Disease or Syndrome
Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009). For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700.

Recent clinical studies

Etiology

Cruz-Korchin N, Korchin L
Plast Reconstr Surg 2004 Sep 15;114(4):890-4. PMID: 15468394
Paone JF, Baker RR
Cancer 1981 Aug 1;48(3):825-9. PMID: 6265059

Prognosis

Cruz-Korchin N, Korchin L
Plast Reconstr Surg 2004 Sep 15;114(4):890-4. PMID: 15468394
Paone JF, Baker RR
Cancer 1981 Aug 1;48(3):825-9. PMID: 6265059

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