Prominent Antihelices: Causes & Reasons

Possible Causes for Prominent Antihelices

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Autosomal Recessive Spastic Paraplegia Type 51

Panel de precisión de paraplejia espástica hereditaria La paraplejía espástica hereditaria (HSP) incluye un grupo de enfermedades familiares que se caracterizan por la degeneración progresiva de los tractos corticoespinales responsables del movimiento y la sensación. Las HSP se diferencian en formas «puras» si hay[…] [igenomix.es]

8q22.1 Microdeletion Syndrome

Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several[…] [research.ed.ac.uk]

Holoprosencephaly Type 9

Advanced Search Help Advanced search lets you search selected properties of the classification. You could search all properties or a selected subset only First, you need to provide keywords in the Search Text field then check the properties that you'd like to include in the search. The system will search for the[…] [icd.who.int]

Allan-Herndon-Dudley Syndrome

At a glance Most affected neonates and infants with this disorder appear to develop normally in the first few months of life; however, the presence of poor muscle tone is most often already present at birth. By the age of 6 months, hypotonia with the inability to hold up the head and severe muscle atrophy[…] [accessanesthesiology.mhmedical.com]

Congenital Disorder of Glycosylation Type 2A

antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. [mendelian.co]

Number: 79329 Definition MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent [rarediseases.info.nih.gov]

CDG2A Mgat2-cdg Description MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent [mendelian.co]

Partial Trisomy 2p

Dysmorphic facial features included prominent forehead, large prominent ears with prominent antihelices, deep-set eyes, hypertelorism, bilateral corneal opacities, broad nose [hindawi.com]

17q11 Microdeletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

6q25 Microdeletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

1q41-q42 Microdeletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

Proximal 16p11.2 Microdeletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

Isolated Congenital Sclerocornea

antihelices. [stanfordchildrens.org]

antihelices, hypoplastic nails, and precocious/early puberty. [stanfordchildrens.org]

[…] appear to have mild to moderate developmental delay, social and interactive personality, behavior issues such as attention deficit-hyperactivity disorder, short stature, prominent [stanfordchildrens.org]

Tetrasomy 9p

Clinical assessment showed the following findings (fig 1): low frontal hairline, prominent antihelices and hypoplastic lobules of the ears, upward slanting palpebral fissures [jmg.bmj.com]

Hypotonia-Failure to Thrive-Microcephaly Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

[…] forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft [chr7.org]

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present ( Figure 1C ). 9q22.3 Deletion. [scielo.br]

Lateral Meningocele

The ears appeared low-set and posteriorly an-gulated with prominent antihelices. [documents.tips]

Ears appeared low-set and poste-riorly angulated, with prominent antihelices and de-creased cartilage resilience (Fig. 13). [documents.tips]

antihelices, lownuchal hair line, and short neck.232 Gripp et al.karyotype. [documents.tips]

Partial Trisomy 8q

Dysmorphic facial features included prominent forehead, large prominent ears with prominent antihelices, deep-set eyes, hypertelorism, bilateral corneal opacities, broad nose [hindawi.com]

17q11 Microdeletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

15q24 Deletion Syndrome

Short stature, prominent antihelices, hypoplastic nails and precocious/early puberty are also present (Figure 1C). 9q22.3 Deletion. [scielo.br]

Macrocephaly-Developmental Delay Syndrome

antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32 458833, 7228036, 6758992, 7154049, 3879441 [chr7.org]

[…] genes only Edit 10 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent [chr7.org]

Trisomy 20

high arched or cleft palate, micrognathia, and large dysplastic ears with prominent antihelices. [flandershealth.us]

Craniofacial dysmorphism (see Fig. 8) includes prominent forehead, deep-set eyes, strabismus, broad nasal bridge, upturned nares, long upper lip, thick and everted lower lip [flandershealth.us]

Microcephalic Primordial Dwarfism Type Alazami

antihelices. [stanfordchildrens.org]

antihelices, hypoplastic nails, and precocious/early puberty. [stanfordchildrens.org]

Tricho-Retino-Dento-Digital Syndrome

antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. [pubcasefinder.dbcls.jp]

Autosomal recessive inheritance MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent [pubcasefinder.dbcls.jp]

Intellectual Disability - Spasticity - Ectrodactyly Syndrome

[…] forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft [chr7.org]

antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32 458833, 7228036, 6758992, 7154049, 3879441 [chr7.org]

[…] tip of the nose, large ears q35 qter 738736, 6758992, 8135290 AC07 1975 [738736], case 30 [6758992] Edit 259 7235841 46, XY, del(7)(q35) de novo facial dysmorphism with a prominent [chr7.org]

Hawkinsinuria

antihelices, hypoplastic nails, and precocious/early puberty. [profiles.stanford.edu]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32 458833, 7228036, 6758992, 7154049, 3879441 [chr7.org]

15732063 Edit 104 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent [chr7.org]

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

[…] forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft [chr7.org]

[…] ears, micrognathia, high palate, bulbous nasal tip, posteriorly rotated ears q34 q36 7529320 proband Edit 201 7235841 46, XY, del(7)(q35) de novo facial dysmorphism with a prominent [chr7.org]

Postaxial Polydactyly Type A5

antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32 458833, 7228036, 6758992, 7154049, 3879441 [chr7.org]

21980823 MK Edit 158 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent [chr7.org]

Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

[…] forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft [chr7.org]

CODAS Syndrome

The ears were dysplastic with strikingly hypoplastic helices and antihelices (fig 1A-C). The neck was short with a normal posterior hairline. [jmg.bmj.com]

Dysmorphic features included a flat face, high forehead, depressed nasal bridge, short nose with anteverted nares, midface hypoplasia, and prominent philtrum. [jmg.bmj.com]

Pancytopenia - Developmental Delay Syndrome

[…] forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft [chr7.org]

[…] ridges, hyperextensible fingers, clinodactyly of the 4th toes q35 qter 6199974, 8135290 patient 2 Edit 114 7235841 46, XY, del(7)(q35) de novo facial dysmorphism with a prominent [chr7.org]