Abnormal facial shape, and Abdominal pain

Diseases related with Abnormal facial shape and Abdominal pain

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


Top matches:

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

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Other less relevant matches:

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 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 SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Low match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

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 MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abdominal pain

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Cataract Intellectual disability Fever Psychosis Weight loss Fatigue Vomiting Immunodeficiency Coarse facial features Abnormality of the liver Generalized hirsutism Headache Seizures Hepatomegaly Microcephaly Episodic abdominal pain Cardiomyopathy Lipodystrophy Global developmental delay Hepatosplenomegaly Diarrhea Short stature Round face Ataxia Recurrent fractures

Rare Symptoms - Less than 30% cases


Visual loss Triangular face Prominent nasal bridge Sleep disturbance Bruising susceptibility Depressivity Infertility Pneumonia Lethargy Osteoporosis Emotional lability Anxiety Peripheral neuropathy Clumsiness Diabetes mellitus Low-set, posteriorly rotated ears Visual impairment Premature ovarian insufficiency Thin skin Metrorrhagia Cerebral cortical atrophy Progressive cerebellar ataxia Memory impairment Macroglossia Orthostatic hypotension Elevated hepatic transaminase Edema Obesity Splenomegaly Macrocephaly Hypertelorism Low-set ears Generalized hypotonia Onychomycosis Nephrolithiasis Pituitary adenoma Adrenal hyperplasia Bipolar affective disorder Aseptic necrosis Generalized hyperpigmentation Telangiectasia of the skin Truncal obesity Menorrhagia Acne Delayed skeletal maturation Hypokalemia Recurrent skin infections Venous thrombosis Kyphoscoliosis Muscle weakness Intestinal obstruction Gastrointestinal obstruction Abdominal distention Skin rash Constipation Dysphagia Anemia Decreased body weight Specific learning disability Clinodactyly Dilatation Kyphosis Micrognathia Frontal bossing Paralysis Hyperparathyroidism Urinary retention Hypotension Intestinal pseudo-obstruction Increased body weight Abdominal situs inversus Agitation Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Hydroureter Disproportionate tall stature Dementia Anonychia Malnutrition Portal hypertension Recurrent respiratory infections Babinski sign Hypoalbuminemia Blindness External ophthalmoplegia Dysarthria Pancreatitis Horseshoe kidney Hirsutism Mental deterioration Neurodegeneration Hypoperistalsis Neuroma Barrett esophagus Urinary incontinence Cardiomegaly Progressive neurologic deterioration Chronic diarrhea Hypohidrosis Fasciculations Hemiplegia Impotence Urethral obstruction Respiratory tract infection Megalencephaly Hyperhidrosis Supranuclear gaze palsy Motor deterioration Upper motor neuron dysfunction Progressive psychomotor deterioration Megacystis Cherry red spot of the macula Prune belly Recurrent urinary tract infections Impaired thermal sensitivity Microcolon Pollakisuria Osteopenia Abnormality of glycosphingolipid metabolism Therapeutic abortion Aganglionic megacolon Morbilliform rash Abnormality of cardiovascular system morphology Leukemia Dolichocephaly Malabsorption Lymphadenopathy Lactic acidosis Anteverted nares Metabolic acidosis Cryptorchidism Cleft palate Normocytic hypoplastic anemia Nevus Fluctuating splenomegaly Fluctuating hepatomegaly Aciduria Abnormality of the nervous system Chronic leukemia Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Underdeveloped nasal alae Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Blue sclerae Polyhydramnios Hypoglycemia Interphalangeal joint contracture of finger Decreased circulating ACTH level Overgrowth Intestinal malrotation Vesicoureteral reflux Arachnodactyly Narrow chest Ophthalmoplegia Broad forehead Joint stiffness Hydronephrosis Striae distensae Subarachnoid hemorrhage Increased circulating cortisol level Neoplasm of the endocrine system Abdominal obesity Mood changes Umbilical hernia Cerebellar atrophy Arthralgia Acidosis Posteriorly rotated ears Elevated serum creatine phosphokinase Thrombocytopenia Cerebral atrophy Downslanted palpebral fissures Moon facies Optic atrophy Muscular hypotonia Nystagmus Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Retinal dystrophy High palate Hyperreflexia Flexion contracture Paraganglioma Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Neoplasm of the gastrointestinal tract Giant hypertrophic gastritis Growth delay Pectus excavatum Irregular hyperpigmentation Pes planus Deeply set eye Carcinoma Hepatic failure Bulbous nose Single transverse palmar crease Elbow flexion contracture Premature graying of hair Subcapsular cataract Hepatocellular carcinoma Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Lipoma Neurofibromas Gait disturbance Perimembranous ventricular septal defect Brachydactyly Ventricular septal defect Renal insufficiency Syndactyly Patent ductus arteriosus Abnormal heart morphology Pulmonic stenosis Short palm Finger clinodactyly Aortic regurgitation Cutaneous syndactyly Bicuspid aortic valve Increased susceptibility to fractures Cutaneous finger syndactyly Gastritis Hypermelanotic macule Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Pallor Nausea and vomiting Gastrointestinal hemorrhage Hyperpigmentation of the skin Eosinophilia Sarcoma Urticaria Large hands Fulminant hepatic failure Respiratory failure Hearing impairment Sleep apnea Long philtrum Abnormality of metabolism/homeostasis Inguinal hernia Prominent forehead Hyperactivity Thin upper lip vermilion Developmental regression Attention deficit hyperactivity disorder Synophrys Smooth philtrum Joint hypermobility High, narrow palate Low posterior hairline Hoarse voice Hyperkinesis Wide nasal bridge Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Protuberant abdomen Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Intellectual disability, mild Epicanthus Arthritis Episodic fever Erythema Abnormality of the cerebral white matter Dry skin Otitis media Abnormal lung morphology Telangiectasia Recurrent pneumonia Scaling skin Pulmonary fibrosis Restrictive ventilatory defect Interstitial pulmonary abnormality Bronchitis Recurrent sinusitis IgA deficiency IgG deficiency Cognitive impairment Enuresis nocturna Scoliosis Poor hand-eye coordination Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Increased sensitivity to ionizing radiation Intraventricular hemorrhage Elevated alpha-fetoprotein Chronic sinusitis Generalized lymphadenopathy Conjunctival telangiectasia IgM deficiency Demyelinating peripheral neuropathy Recurrent viral infections Mild global developmental delay Megaduodenum



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