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Anteverted ears

MedGen UID:
384047
Concept ID:
C1857055
Finding
HPO: HP:0040080

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Anteverted ears

Conditions with this feature

Oculofaciocardiodental syndrome
MedGen UID:
337547
Concept ID:
C1846265
Disease or Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.\n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.
Deafness with labyrinthine aplasia, microtia, and microdontia
MedGen UID:
342803
Concept ID:
C1853144
Disease or Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.
Koolen-de Vries syndrome
MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Chromosome 13q14 deletion syndrome
MedGen UID:
462652
Concept ID:
C3151302
Disease or Syndrome
The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
MedGen UID:
813072
Concept ID:
C3806742
Disease or Syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
MedGen UID:
816183
Concept ID:
C3809853
Disease or Syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
MedGen UID:
1612119
Concept ID:
C4539968
Disease or Syndrome
CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
MedGen UID:
1648308
Concept ID:
C4748120
Disease or Syndrome

Professional guidelines

PubMed

Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Vo Quang S, Galliani E, Eche S, Tomat C, Fauroux B, Picard A, Kadlub N
J Stomatol Oral Maxillofac Surg 2019 Apr;120(2):110-115. Epub 2018 Nov 2 doi: 10.1016/j.jormas.2018.10.011. PMID: 30396025
Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP
Am J Med Genet A 2003 Aug 1;120A(4):523-7. doi: 10.1002/ajmg.a.20120. PMID: 12884432
Golabi M, Ito M, Hall BD
Am J Med Genet 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130. PMID: 6711604

Diagnosis

Davarnia B, Panahi M, Rahimi B, Anari H, Farajollahi R, Rodbaneh EA, Jeddi F
J Med Case Rep 2024 Jan 5;18(1):4. doi: 10.1186/s13256-023-04237-w. PMID: 38178270Free PMC Article
Zhou D, Wang Q, Liu H
Medicine (Baltimore) 2021 Jan 15;100(2):e22902. doi: 10.1097/MD.0000000000022902. PMID: 33466118Free PMC Article
Brett M, Korovesis G, Lai AHM, Lim ECP, Tan EC
J Hum Genet 2017 Jul;62(7):711-715. Epub 2017 Mar 23 doi: 10.1038/jhg.2017.32. PMID: 28331219
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I
J Inherit Metab Dis 2006 Oct;29(5):683. Epub 2006 Aug 5 doi: 10.1007/s10545-006-0321-0. PMID: 16972175
Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP
Am J Med Genet A 2003 Aug 1;120A(4):523-7. doi: 10.1002/ajmg.a.20120. PMID: 12884432

Prognosis

Zhou D, Wang Q, Liu H
Medicine (Baltimore) 2021 Jan 15;100(2):e22902. doi: 10.1097/MD.0000000000022902. PMID: 33466118Free PMC Article
Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP
Am J Med Genet A 2003 Aug 1;120A(4):523-7. doi: 10.1002/ajmg.a.20120. PMID: 12884432
Golabi M, Ito M, Hall BD
Am J Med Genet 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130. PMID: 6711604

Clinical prediction guides

Davarnia B, Panahi M, Rahimi B, Anari H, Farajollahi R, Rodbaneh EA, Jeddi F
J Med Case Rep 2024 Jan 5;18(1):4. doi: 10.1186/s13256-023-04237-w. PMID: 38178270Free PMC Article
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I
J Inherit Metab Dis 2006 Oct;29(5):683. Epub 2006 Aug 5 doi: 10.1007/s10545-006-0321-0. PMID: 16972175

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