Abnormal facial shape, and Headache

Diseases related with Abnormal facial shape and Headache

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Headache that can help you solving undiagnosed cases.


Top matches:

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Low match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

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Other less relevant matches:

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match CROUZON DISEASE


Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Headache

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Increased intracranial pressure Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Headache. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressivity Global developmental delay Hearing impairment Abdominal pain Proptosis Immunodeficiency Hypertension Hydrocephalus Visual loss Seizures Cataract Pituitary adenoma Obesity Cardiomyopathy Bruising susceptibility

Rare Symptoms - Less than 30% cases


Telangiectasia of the skin Migraine Uveitis Bipolar affective disorder Aseptic necrosis Generalized hyperpigmentation Menorrhagia Truncal obesity Metrorrhagia Acne Premature ovarian insufficiency Lipodystrophy Hypertelorism Onychomycosis Skin rash Strabismus Failure to thrive Inflammatory abnormality of the eye Short stature Microcephaly Pneumonia Respiratory failure Weight loss Arthritis Recurrent skin infections Acanthosis nigricans Blindness Edema Frontal bossing Anemia Sensorineural hearing impairment Hypokalemia Adrenal hyperplasia Kyphosis Lethargy Respiratory distress Postural instability Nausea Infertility Moon facies Dorsocervical fat pad Sleep apnea Sleep disturbance Anxiety Diabetes mellitus Osteosarcoma Choanal stenosis Delayed speech and language development Osteoporosis Myopathy Papilledema Thin skin Round face Midface retrusion Nephrolithiasis Generalized hirsutism Psychosis High forehead Abdominal obesity Vomiting Carcinoma Venous thrombosis Clumsiness Neoplasm of the endocrine system Recurrent fractures Specific learning disability Multiple suture craniosynostosis Malar rash Vitreous hemorrhage Buphthalmos Retinoblastoma Leukocoria Ocular pain Anisocoria Leiomyosarcoma Soft tissue sarcoma Myelodysplasia Astrocytoma Lymphoma Nystagmus Cleft palate Pain Malar flattening Glaucoma Leukemia Abnormality of skin pigmentation Anorexia Acute monocytic leukemia Sarcoma Narrow internal auditory canal Neurofibromas Cellulitis Acute myeloid leukemia Chromosome breakage Anemia of inadequate production Glioblastoma multiforme Abnormality of the cervical spine Fibrosarcoma Dental malocclusion Amblyopia Dental crowding Choanal atresia Short upper lip Primary amenorrhea Amenorrhea Convex nasal ridge Hypoplasia of the maxilla Conjunctivitis Iris coloboma Delayed puberty Craniosynostosis Cleft lip Conductive hearing impairment Mandibular prognathia Brachycephaly Narrow palate Torticollis Cerebellar hypoplasia Shallow orbits Lambdoidal craniosynostosis Sagittal craniosynostosis Cloverleaf skull Gonadoblastoma Coronal craniosynostosis Abnormality of the skull Turricephaly Scaphocephaly Hypopigmented skin patches Syringomyelia Gonadal dysgenesis Keratitis Melanocytic nevus Trigonocephaly Atresia of the external auditory canal Arnold-Chiari malformation Prominent forehead Abnormality of the dentition Burkitt lymphoma Craniofacial dysostosis Skeletal muscle atrophy Muscle weakness Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Dysgerminoma Mental deterioration Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Osteopenia Hirsutism Respiratory insufficiency Abnormality of the nasopharynx Downslanted palpebral fissures Optic atrophy Ptosis Primary hypercortisolism Macronodular adrenal hyperplasia Mood changes Decreased circulating ACTH level Abnormal sacrum morphology Hypotension Increased circulating cortisol level Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Increased body weight Memory impairment Pineal cyst Low-set ears Choroid plexus carcinoma Retinal dystrophy Hyperuricemia Chronic kidney disease Low anterior hairline Aganglionic megacolon Renal agenesis Vesicoureteral reflux Arachnodactyly Oval face Prominent nasal bridge Attention deficit hyperactivity disorder Autistic behavior Abnormality of the kidney Proteinuria Neonatal hypotonia Chronic constipation Moderate receptive language delay Narrow mouth Hepatosplenomegaly Premature birth Lymphadenopathy Nausea and vomiting Papule Myalgia EEG abnormality Arthralgia Growth delay Skeletal dysplasia Splenomegaly Macrocephaly Fever Brachydactyly Hepatomegaly Autism Hyperactivity Meningitis Pituitary prolactin cell adenoma Dysarthria Motor delay Scoliosis Increased serum insulin-like growth factor 1 Prolactinoma Pituitary growth hormone cell adenoma Galactorrhea Hypertonia Menstrual irregularities Prolactin excess Growth hormone excess Left ventricular hypertrophy Epidermal acanthosis Coarse facial features Cerebellar atrophy Hyperhidrosis Rod-cone dystrophy Blurred vision Constipation Craniofacial disproportion Tip-toe gait Hand clenching Myokymia Poor coordination Calf muscle hypertrophy Kyphoscoliosis Myotonia Muscle stiffness Diplopia Choreoathetosis Muscle cramps Vertigo Overgrowth Vasculitis Choroid plexus papilloma Generalized lymphadenopathy Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Increased sensitivity to ionizing radiation Intraventricular hemorrhage Enuresis nocturna Elevated alpha-fetoprotein Conjunctival telangiectasia Cryptorchidism IgM deficiency Demyelinating peripheral neuropathy Recurrent viral infections Mild global developmental delay Chronic sinusitis IgG deficiency Poor hand-eye coordination Feeding difficulties IgA deficiency Macroglossia Papilloma Broad ribs Broad neck Upper limb undergrowth Loss of consciousness Hypertrichosis Delayed eruption of teeth Abnormality of the skeletal system Apnea Hydronephrosis Micropenis Recurrent infections Atrial septal defect Talipes equinovarus Episodic fever Recurrent sinusitis Joint dislocation Arthropathy Abnormality of neutrophils Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Amyloidosis Abnormal joint morphology Retrobulbar optic neuritis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Reduced bone mineral density Purpura Pseudopapilledema Abnormal granulocyte morphology Bronchitis Telangiectasia Interstitial pulmonary abnormality Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Scaling skin Recurrent pneumonia Abnormal lung morphology Ataxia Otitis media Dry skin Abnormality of the cerebral white matter Erythema Diarrhea Gait disturbance Cartilaginous trachea



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