Beaked Nose: Causes & Reasons

Possible Causes for Beaked Nose

Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature [unboundmedicine.com]

Clinical aspects The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract [accesspediatrics.mhmedical.com]

The syndrome associates a bird-like facies with hypoplastic mandible (in all dimensions) and “parrot-beaked” nose, microphthalmia, and congenital cataract. [accessanesthesiology.mhmedical.com]

Cloverleaf Skull

For example, in Crouzon syndrome (symptoms: bulging eyes, beaked nose, flat face), the growth factor receptors are FGFR2 and FGFR3. [brighthub.com]

Facial malformations include high forehead, severe proptosis, or exophthalmoses, beaked nose, and downward displacement of ears. [prince.org]

Cerebellum malformations * Motor retardation * Webbed toes * Webbed fingers * Restricted joint mobility * Vertebral abnormalities * Mental retardation * High forehead * Beaked [checkorphan.org]

Saethre-Chotzen Syndrome

The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus [ncbi.nlm.nih.gov]

In addition to fused sutures, children with Saethre Chotzen syndrome also have a characteristic low-set hairline, a “beaked” nose and short stature. [mercy.net]

Seckel Syndrome

Osteodysplastic Bird-Headed Dwarfism Type III (Osteodysplastic Primordial Dwarfism Type III): Characterized by short stature, microcephaly, and a “beak-like” nose. [accessanesthesiology.mhmedical.com]

Seck·el syn·drome ( sek'ĕl ), [MIM*210600] an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible [medical-dictionary.thefreedictionary.com]

This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent [ncbi.nlm.nih.gov]

Sanjad-Sakati Syndrome

Facial features of SSS include low set ears, deep set eyes, thin lips, micrognathia, and a beaked nose [3]. [karger.com]

The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. [ncbi.nlm.nih.gov]

nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. [ebi.ac.uk]

Rubinstein-Taybi Syndrome

These include anti-mongoloid slant of eyes, heavy eye brows, low set ears and beaked nose. [faoj.org]

The latter include down-slanted palpebral fissures, broad nasal bridge, beaked nose and micrognathia [ 1 ]. [link.springer.com]

Commonly observed features include: prominent beaked nose (90%), antimongoloid palpebral fissures (88%), low-set/malformed ears (84%), strabismus (69%), broad thumbs with [faoj.org]

Crouzon Syndrome-Acanthosis Nigricans Syndrome

Crou·zon syn·drome ( krŭ-zŏn[h]' ), [MIM*123500] craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; autosomal [medical-dictionary.thefreedictionary.com]

nose - Facial pain / cephalalgia / migraine - High vaulted / narrow palate - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea [csbg.cnb.csic.es]

We report on an infant who presented at birth with multisuture synostosis, turribrachycephaly, midface hypoplasia, beaked nose, low set ears, a high palate and short squat [onlinelibrary.wiley.com]

Arterial Tortuosity Syndrome

Other typical manifestations are dysmorphic features (including an elongated face, micrognathia, a high palate, and a beaked nose), soft and hyperextensible skin, cutis laxa [orpha.net]

nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw ( micrognathia ); and large ears. [ghr.nlm.nih.gov]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cutis laxa Loose and inelastic skin 0000973 Downslanted palpebral fissures Downward slanting [rarediseases.info.nih.gov]

Progeria

The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose; [ncbi.nlm.nih.gov]

Figure 1: (a) Progeriod facies with frontal bossing, beaked nose. (b) mottled pigmentation around the neck. [idoj.in]

[…] progeria develop within 2 yr and include Growth failure (eg, short stature, delayed tooth eruption) Craniofacial abnormalities (eg, craniofacial disproportion, micrognathia, beaked [msdmanuals.com]

Pitt-Hopkins Syndrome

nose, wide mouth, fleshy lips, and clubbed fingertips). [ncbi.nlm.nih.gov]

The dysmorphism consists of a large beaked nose, cup-shaped ears with broad helices, a wide mouth, Cupid's bow upper lip, wide and shallow palate and broad or clubbed fingertips [ncbi.nlm.nih.gov]

Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. [genome.jp]

Wolf-Hirschhorn Syndrome

Note the characteristic dysmorphic facial features, including prominent glabella, hypertelorism, beaked nose, and frontal bossing, collectively described as "Greek warrior [emedicine.medscape.com]

Prominent forehead, wideset eyes, and broad beaked nose. Very short stature, facial deformities, malformations of hands and feet, chest, and spine. Heart defects. [medigoo.com]

Children may also have epilepsy, a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate, and delayed [merckmanuals.com]

Apert Syndrome

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption [rarediseases.info.nih.gov]

The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw [craniofacialmd.com]

[…] thumb Absent/underdeveloped thumb [ more ] 0009601 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cervical C5/C6 vertebrae fusion 0004635 Convex nasal ridge Beaked [rarediseases.info.nih.gov]

Werner Syndrome

Characteristic features include short stature, premature graying, early baldness, wizened face, beaked nose, cataracts, skin changes reminiscent of those in scleroderma, deposits [medicinenet.com]

Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance. [whonamedit.com]

Figure 1: Senile look with beak - like nose Figure 2: Scanty and grey scalp hair The skin of the extremities was atrophic and sclerotic. [ijdvl.com]

Ring Chromosome 4

Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe [ncbi.nlm.nih.gov]

* Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal [checkorphan.org]

" nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). [informationtherapy.in]

Bangstad Syndrome

The most common symptoms of this syndrome would be short stature, goiter, diabetes, ataxia, deafness, small head, mental retardation, beaked nose, clubfoot, undescended testes [symptoms.in]

nose. [scinapse.io]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Deviation of finger [rarediseases.info.nih.gov]

Nestor-Guillermo Progeria Syndrome

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Delayed closure of the anterior fontanelle Later than typical closing of soft spot of skull [rarediseases.info.nih.gov]

[…] with Malouf syndrome. ...read moreread less Abstract: Two unrelated young women presented with similar dysmorphic features including severe retrognathia, beaked nose, narrow [typeset.io]

As the disorder progresses, the appearance of these children is characterized by features, such as a beaked nose, large eyes and head size, narrow face, and visible veins. [pharmacytimes.com]

Bilateral Renal Agenesis

The face usually consists of wide-set eyes; a “parrot beak” nose; a receding chin, and large low set ears deficient in cartilage. [rarediseases.org]

nose, receding chin, large low set ears with deficient auricular cartilages, absent urine output and non palpable kidneys. [drberman.org]

New born with this condition may have low set ears, wide set eyes, nose like parrot beak, receding chin, dehydrated skin, prominent fold in the inner side of the eye, defect [tandurust.com]

Partial Trisomy 8q

* Beaked nose * Broad nasal base * Flat nasal root * Anteverted nostrils * Bulbous nasal tip * Epicanthal folds * Long philtrum * Large mouth * Down turned corners of mouth [checkorphan.org]

* Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Drooping upper eyelid * Short nose [checkorphan.org]

Dennis-Fairhurst-Moore Syndrome

Symptoms * Infant death * Fetal death * Slender long bones * Fractures * Poor calcification of skull * Dwarfism * Small jaw * Beaked nose * Decreased hair * Small eyes * Congenital [checkorphan.org]

narrow nose, downturned mouth, and posteriorly angulated ears). [orpha.net]

Physical examination revealed craniofacial abnormalities with prominent parietal bones, a hypoplastic mandible, a beak-shaped nose and malformed teeth (Figure 1). [journals.lww.com]

Jones-Hersh-Yusk Syndrome

Synonyms Aplasia cutis cleft palate epidermolysis Ptosis, ectropion, thin skin, beaked nose Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly [rarediseases.org]

nose See more Don’t fight Jones Hersh Yusk syndrome alone. [rareguru.com]

[…] noseAplasia cutis cleft palate epidermolysis; Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly; Ptosis, ectropion, thin skin, beaked nose About [rarediseases.info.nih.gov]

Milner-Khallouf-Gibson Syndrome

MalaCards based summary: Milner Khallouf Gibson Syndrome, is also known as microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm [malacards.org]

About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation [rareguru.com]

nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia TERMUI T742722 TH ORD (2010) tui T047 [bioportal.bioontology.org]

Johanson-Blizzard Syndrome

She had a FIG. 1 Patient at age of 12 days: Characteristic facies with beaked nose, hypoplastic alae nasi, long philtrum with thin upper lip and frontal hirsutism with upsweep [yumpu.com]

Ultrasound-based prenatal diagnosis has been reported previously [4,5] suspected by a beak-like nose and a dilated sigmoid colon suggestive of imperforate anus at 21 weeks [indianpediatrics.net]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Death in childhood [rarediseases.info.nih.gov]

Seckel Syndrome Type 8

nose It is considered a type of primordial dwarfism. [radiopaedia.org]

nose, Cerebellar vermis hypoplasia, unilateral hydronephrosis ( AP renal pelvis measurement = 1.4 cm), suspected agenesis of corpus callosum Figure 3: At 34 weeks fetal age [contemporaryobgyn.net]

There are characteristic bird like facies with a beak like nose, microcephalic head, micrognathia(small head) and malformed ears. [wikidoc.org]

Mandibuloacral Dysplasia with Type B Lipodystrophy

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Generalized lipodystrophy 0009064 Hyperlipidemia Elevated lipids in blood 0003077 Hyperpigmentation [rarediseases.info.nih.gov]

Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. [rarediseases.info.nih.gov]

The aged appearance is caused by skin atrophy, alopecia, premature loss of teeth and a thin face and beaked nose. [fdna.health]

Saul-Wilson Syndrome

Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. [orpha.net]

Characteristics of Saul Wilson Syndrome include: Small head Prominent forehead Prominent eyes Flat cheek bones Narrow nose root Beaked nose Cataract Cone-shaped epiphyses [littlepersonuniquelife.com]

nose, a wide area separating the nostrils (broad columella), a thin upper lip, and a small lower jaw (micrognathia). [malacards.org]

Seckel Syndrome Type 2

nose. [thejns.org]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed skeletal maturation Delayed bone maturation Delayed skeletal [rarediseases.info.nih.gov]

nose, narrow face, and receding lower jaw. [globalgenes.org]

Pfeiffer Syndrome

This causes a crescent moon or sunken facial appearance with depressed nasal bridge and beak nose. [chop.edu]

Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. [encyclopedia.pub]

nose; hearing loss; and dental problems. [malacards.org]

Hypospadias - Intellectual Disability Syndrome Type Goldblatt

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Low-set, posteriorly rotated ears 0000368 Midface retrusion Decreased size of midface Midface [rarediseases.info.nih.gov]

Abnormality of the roof of the mouth [ more ] 0000174 Abnormal toenail morphology Abnormality of the toenail Abnormality of the toenails [ more ] 0008388 Convex nasal ridge Beaked [rarediseases.info.nih.gov]

[…] toenail morphology Abnormality of the toenail Abnormality of the toenails [ more ] 0008388 Abnormality of the fingernails Abnormal fingernails 0001231 Convex nasal ridge Beaked [rarediseases.info.nih.gov]

Say Barber Miller Syndrome

The characteristic facies was marked by a sloping forehead, beaked nose, large and protruding ears, and micrognathia. [orpha.net]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis 0001363 Delayed speech and language development Deficiency of speech development [rarediseases.info.nih.gov]

[…] head circumference Small head circumference [ more ] 0000252 Transient hypogammaglobulinemia of infancy 0005432 30%-79% of people have these symptoms Convex nasal ridge Beaked [rarediseases.info.nih.gov]

Baraitser-Rodeck-Garner Syndrome

Craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose Overview Baraitser-Rodeck-Garner syndrome [checkorphan.org]

nose See more Don’t fight Baraitser Rodeck Garner syndrome alone. [rareguru.com]

Press Contact Search the Library Other Names: Craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked [rareguru.com]