Bird-like Facies: Causes & Reasons - Symptoma

Possible Causes for Bird-like Facies

Hallermann-Streiff Syndrome

Patients show bird-like facies, dental abnormalities, and hypotrichosis with various ophthalmic abnormalities. [ncbi.nlm.nih.gov]

Hallermann-Streiff syndrome is a rare congenital disorder characterized by bird-like facies and dental anomalies. [ncbi.nlm.nih.gov]

It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. [ncbi.nlm.nih.gov]

Seckel Syndrome

Seckel syndrome is an autosomal recessive disorder characterized by severe intrauterine growth retardation, microcephalic bird-like facies, and a mental retardation. [go.gale.com]

[…] from other similar dwarfisms.Most of the primary diagnostic features of Seckel syndrome, which include severe intrauterine growth restriction, a small head, characteristic "bird-like [medigoo.com]

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

Schöpf-Schulz-Passarge Syndrome

Some patients have been described to have a bird-like facies. [orpha.net]

He also had bird-like facies. Further examination revealed generalized ichthyosis with sparing of the cubital, popliteal fossae, and axillary folds [Figure 2]a. [go.gale.com]

Mandibuloacral Dysplasia with Type B Lipodystrophy

facies Bird-like facial appearance 0000320 Brittle hair 0002299 Decreased adipose tissue around neck Loss of fat around neck 0005995 Delayed cranial suture closure 0000270 [rarediseases.info.nih.gov]

[…] of people who have these symptoms is not available through HPO Abnormality of hair texture 0010719 Abnormality of the neck 0000464 Autosomal recessive inheritance 0000007 Bird-like [rarediseases.info.nih.gov]

Mandibuloacral Dysostosis

Some patients may show premature aging features including bird-like facies, high-pitched voice, alopecia, skin atrophy, and nail dysplasia [ 2, 6 ]. [bmcpediatr.biomedcentral.com]

CAMFAK Syndrome

Severe mental and growth retardation, microcephaly and micrognathia with bird-like facies (with similarities to Seckel Syndrome), spasticity, cerebellar hypoplasia, cerebral [accessanesthesiology.mhmedical.com]

Facial features consist of microcephaly and micrognathia with bird-like facies (with similarities to ☞Seckel Syndrome), narrow palpebral fissures, enophthalmos, cataracts, [accessanesthesiology.mhmedical.com]

facies. [ommbid.mhmedical.com]

Seckel Syndrome Type 9

[…] from other similar dwarfisms.Most of the primary diagnostic features of Seckel syndrome, which include severe intrauterine growth restriction, a small head, characteristic "bird-like [medigoo.com]

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

" facies, and mental retardation, are well suited for prenatal sonographic diagnosis. [medigoo.com]

Seckel Syndrome Type 8

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

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Seckel Syndrome Type 1

[…] from other similar dwarfisms.Most of the primary diagnostic features of Seckel syndrome, which include severe intrauterine growth restriction, a small head, characteristic "bird-like [medigoo.com]

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

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Seckel-Like Syndrome Type Majoor-Krakauer

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Kindler Syndrome

Other features are dwarfism, progressive pigmented retinopathy, deafness and bird-like facies, which are absent in Kindler syndrome. [ijdvl.com]

[…] face, short stature, and increased predisposition to malignancy Cockayne syndrome shows photodistributed erythema, atrophy, and hyperpigmentation, dwarfism, deafness, and bird-like [mjmsr.net]

facies RothmundThomson Syndrome shows poikiloderma and photosensitivity with sparse hair, cataracts, hypogonadism, and short stature Xeroderma pigmentosum shows eye and neurological [mjmsr.net]

Seckel Syndrome Type 6

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Seckel Syndrome Type 4

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

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Seckel Syndrome Type 5

The primary diagnostic features are; severe intrauterine growth restriction, microcephaly, characteristic "bird-like" facies, and mental retardation. [contemporaryobgyn.net]

Nijmegen Breakage Syndrome-Like Disorder

Bird-like facies MedGen UID: 325243 •Concept ID: C1837758 • Finding Hypermetropia MedGen UID: 43780 •Concept ID: C0020490 • Disease or Syndrome An abnormality of refraction [ncbi.nlm.nih.gov]

Presentation Intrauterine growth restriction Microgenia/retrognathia (resulting in bird-like facies) Recurring pulmonary infections (pneumonia, bronchitis, sinusitis, otitis [krebs-praedisposition.de]

Abnormal cellular phenotype Chromosomal breakage induced by ionizing radiation Abnormality of head or neck Bird-like facies Abnormality of the eye Hypermetropia Abnormality [ncbi.nlm.nih.gov]

Werner Syndrome

He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, hypotrichosis, atrophic and poikilodermic skin, [ncbi.nlm.nih.gov]

[…] symptoms of early onset bilateral cataracts, thinning and graying of the hair, short stature and skin changes (ankle ulceration, hyperkeratosis, tight skin, age spots, ''bird-like [orpha.net]

'Bird-like' facies. Short stature. Premature greying and/or balding. Other signs and symptoms Type 2 diabetes mellitus. Hypogonadism and decreased fertility. [patient.info]

Autosomal Recessive Primary Microcephaly Type 6

Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like [analesdepediatria.org]

™ facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence [analesdepediatria.org]

Autosomal Recessive Craniosynostosis

Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like [link.springer.com]

facies, and moderate mental retardation. [link.springer.com]

Ectodermal Dysplasia Type Tricho-Odonto-Onychial

Some patients have been described to have a bird-like facies. [orpha.net]

Autosomal Recessive Ichthyosis with Hypotrichosis ARCI11

[…] clavicles Exertional dyspnea Keratoconjunctivitis sicca Thin ribs Renal cell carcinoma Thin bony cortex Prolonged prothrombin time Insulin-resistant diabetes mellitus at puberty Bird-like [mendelian.co]

facies Craniofacial disproportion Absence of pubertal development Bilateral coxa valga Reticulated skin pigmentation Hypoplastic facial bones Sinus tachycardia Mitral valve [mendelian.co]

Autosomal Recessive Primary Microcephaly Type 11

Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like [analesdepediatria.org]

™ facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence [analesdepediatria.org]

Pulmonary Lymphoma

Linfoma de células B rico en células T Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, “bird-like [analesdepediatria.org]

™ facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence [analesdepediatria.org]

Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

like" facies - often have ASD - upper limb defects (3 thumb joints) - myopia - downward lens dislocation (ectopia lentis) - osteoporosis - marfanoid body babitus - abnormal [quizlet.com]

Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia. [disorders.eyes.arizona.edu]

[…] common cause of genetic intellectual disability - long face, large ears, macroorchidism - typically only in MALES Hallermann Streif Syndrome - pointed nose - small eyes - "bird [quizlet.com]

Severe Combined Immunodeficiency with Low T- and B-Cell Numbers

Abnormality of the nervous system Hydronephrosis Intellectual disability, moderate Hyperactivity Macrotia Retrognathia Prominent nose Skeletal muscle atrophy Muscle weakness Bird-like [mendelian.co]

[…] hypomorphic mutation AR Variable Lymphadenopathy Autoimmunity Some radiation sensitive Nijmegen breakage syndrome Nibrin (NBN) AR Decreased CD4 T cells Hypogammaglobulinemia Bird-like [cancertherapyadvisor.com]

facies Recurrent viral infections Recurrent bacterial infections Bulbous nose Hemolytic anemia Lymphoma Abnormality of neuronal migration Cachexia Abnormality of the musculature [mendelian.co]

Qazi-Markouizos Syndrome

[…] syndrome ( DOID:0060590 ) Alliance: disease page Synonyms: XFEPS; XPF-ERCC1 progeroid syndrome Alt IDs: OMIM:610965, MESH:C567043 Definition: A syndrome characterized by aged bird-like [informatics.jax.org]

facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. [informatics.jax.org]

Xeroderma Pigmentosum Complementation Group F

XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. [genecards.org]

facies. [ommbid.mhmedical.com]

Disease descriptionA syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. [uniprot.org]

Oto-Facio-Osseous Gonadal Syndrome

[…] fanconi anaemia megaloblastic anaemia, also HbF present other features: short, DD, renal anomalies, hypogonadism, bird like facies, GIT and cardiac anomalies (PDA, ASD, VSD [brainscape.com]

Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

facies), Café-au-lait spots and/or vitiligo, T-cell lymphopenia or combined immunodeficiency Ligase IV syndrome Microcephaly, facial dysmorphism (bird-like facies), developmental [scielo.br]

like" facies - often have ASD - upper limb defects (3 thumb joints) - myopia - downward lens dislocation (ectopia lentis) - osteoporosis - marfanoid body babitus - abnormal [quizlet.com]

[…] delay, pancytopenia, from normal immune system to SCID Cernunnos deficiency Microcephaly, bird-like facies, osseous and/or urogenital malformations, T-cell lymphopenia or [scielo.br]

Bangstad Syndrome

Both had dwarfism and a characteristic bird-like facies. The two siblings were mentally retarded and suffered from progressive ataxia and epilepsy. [accessanesthesiology.mhmedical.com]

[…] fatty acid level Increased subcutaneous truncal adipose tissue Loss of facial adipose tissue Abnormality of the nail Osteolytic defects of the distal phalanges of the hand Bird-like [mendelian.co]

facies Contractures of the large joints Mottled pigmentation Abnormality of hair texture Poor wound healing Hypoplasia of teeth Myalgia Atherosclerosis Muscle hypertrophy [mendelian.co]

Bilateral Sensorineural Hearing Loss

[…] of permanent teeth Edema Sparse hair Erythema Macrocephaly Rare Symptoms - Less than 30% cases Relative macrocephaly Ridged nail Ectodermal dysplasia Hyperhidrosis Pain Bird-like [mendelian.co]

facies Growth delay Down-sloping shoulders Micrognathia Convex nasal ridge Abnormal facial shape Prominent forehead Onycholysis Cataract Infertility Acrania Reduced number [mendelian.co]