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; GRNG

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

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: UMLS ORPHANET MONDO MESH SCTID OMIM

More info about GRANGE SYNDROME; GRNG

Low match SANDHOFF DISEASE

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 Is also known as gm2-gangliosidosis, type ii, hexosaminidases a and b deficiency;hexosaminidases a and b deficiency, infantile form; infantile gm2 gangliosidosis 0 variant

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Hyperreflexia


SOURCES: ICD10 OMIM ORPHANET

More info about SANDHOFF DISEASE

Low match RIDDLE SYNDROME

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

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: MESH MONDO ORPHANET EFO OMIM UMLS DOID

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Other less relevant matches:

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;sialuria, french type

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

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 corticotroph micro-adenoma; pituitary-dependent cushing syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID

More info about CUSHING DISEASE

Low match PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4

Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, 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).Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR ) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).

PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4 Is also known as cushing disease, pituitary

Related symptoms:

  • Growth delay
  • Cataract
  • Muscle weakness
  • Myopathy
  • Neoplasm


SOURCES: ORPHANET MONDO OMIM NCIT

More info about PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4

Low match FABRY DISEASE

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009).An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003).Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients.Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease.

FABRY DISEASE Is also known as angiokeratoma corporis diffusum, anderson-fabry disease, hereditary dystopic lipidosis, alpha-galactosidase a deficiency, gla deficiency, ceramide trihexosidase deficiency;alpha-galactosidase a deficiency; anderson-fabry disease; angiokeratoma corporis diffusum; diffuse angiokeratoma; fd

Related symptoms:

  • Seizures
  • Short stature
  • Pica
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET DOID MESH SCTID ICD10 OMIM MONDO GARD NCIT

More info about FABRY DISEASE

Low match BASAL CELL NEVUS SYNDROME; BCNS

BASAL CELL NEVUS SYNDROME; BCNS Is also known as gorlin syndrome, gorlin-goltz syndrome, nevoid basal cell carcinoma syndrome;nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MONDO DOID NCIT OMIM GARD

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match TOWNES-BROCKS SYNDROME 1; TBS1

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as renal-ear-anal-radial syndrome, rear syndrome, anus, imperforate, with hand, foot, and ear anomalies, deafness, sensorineural, with imperforate anus and thumb anomalies

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MESH MONDO OMIM GARD DOID NCIT

More info about TOWNES-BROCKS SYNDROME 1; TBS1

Low match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type, atr-x syndrome, atr, nondeletion type;atr-x syndrome

Related symptoms:

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


SOURCES: MESH NCIT UMLS ORPHANET MONDO SCTID GARD DOID OMIM

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Cataract 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


Global developmental delay Coarse facial features Intellectual disability Myopathy Hypertelorism Telangiectasia of the skin Microcephaly Psychosis Oxycephaly Generalized hirsutism Ventricular septal defect Nevus Abnormality of the kidney Milia Sensorineural hearing impairment Pica Emotional lability Macrocephaly Fatigue Neoplasm Cardiomyopathy Edema Renal insufficiency Autosomal dominant inheritance Seizures Clinodactyly Macroglossia Brachydactyly Low-set ears Recurrent fractures Anxiety Wide nasal bridge

Rare Symptoms - Less than 30% cases


Sleep disturbance Thin skin Nephrolithiasis Hypokalemia Round face Autosomal recessive inheritance Bruising susceptibility Visual loss Osteoporosis 2-3 toe syndactyly Developmental regression Abnormality of metabolism/homeostasis Frontal bossing Epicanthus Cognitive impairment Scoliosis Generalized hypotonia Conjunctival telangiectasia Acne Microtia Truncal obesity Carcinoma Micrognathia Strabismus Motor delay Polydactyly Kyphoscoliosis Coloboma Hemivertebrae Ovarian cyst Hypotension Thick lower lip vermilion Papule Nausea and vomiting Skin rash Nephrotic syndrome Hypothyroidism Aseptic necrosis Vomiting Behavioral abnormality Optic atrophy Anemia Hearing impairment Cryptorchidism Hypospadias Gastroesophageal reflux Umbilical hernia Abnormal lung morphology Purpura Irritability Growth delay Pituitary adenoma Interstitial pulmonary abnormality Diabetes mellitus Hepatosplenomegaly Arthritis Syndactyly Dilatation Perimembranous ventricular septal defect Ataxia Abnormal heart morphology Fasciculations Headache Cerebral cortical atrophy Immunodeficiency Hyperhidrosis Pneumonia Diarrhea Hypohidrosis Urinary incontinence Peripheral neuropathy Muscle weakness Specific learning disability Splenomegaly Impotence Orthostatic hypotension Blindness Episodic abdominal pain Failure to thrive Skeletal muscle atrophy Abnormality of cardiovascular system morphology Orbital cyst Palmar pits Cervical ribs Short distal phalanx of the thumb Multiple impacted teeth Abnormal hemoglobin Hamartomatous polyposis Volvulus Ovarian carcinoma Absent frontal sinuses Ileus Vertebral wedging Parietal bossing Ectopic calcification Triangular mouth U-Shaped upper lip vermilion Cardiac rhabdomyoma Tapered finger Histiocytoma Facial hypotonia Abnormality of the pinna Macrotia Hernia Hypoplasia of the corpus callosum Protruding tongue Hamartomatous stomach polyps Irregular ossification of hand bones Mesenteric cyst Bridged sella turcica Cardiac fibroma Male pseudohermaphroditism Severe hydrocephalus Chronic constipation Decreased serum testosterone level Odontogenic keratocysts of the jaw Ovarian fibroma Bifid ribs Medulloblastoma Hypochromic microcytic anemia Profound global developmental delay Calcification of falx cerebri Plantar pits Supernumerary ribs Widely-spaced maxillary central incisors Ulcerative colitis Glaucoma Oral cleft Abnormality of the ribs Postaxial polydactyly Cerebral calcification Acrania Iris coloboma Cleft upper lip Cleft lip Facial palsy EEG abnormality Proptosis Mandibular prognathia Retrognathia Exotropia Heterogeneous Pectus excavatum Microphthalmia Coma Abnormality of the skeletal system Hydrocephalus Tics Downslanted palpebral fissures Cleft palate Abnormality of fontanelles Cornea verticillata Acroparesthesia Hyperpigmentation of the skin Hemiparesis Broad face Disproportionate tall stature Skin tags Brain neoplasm Astrocytoma Anal atresia Neoplasm of the endocrine system Short 4th metacarpal Down-sloping shoulders Thoracic scoliosis Reduced alpha/beta synthesis ratio Sprengel anomaly Endometriosis Abnormality of the sternum Long fingers Bradycardia Inflammation of the large intestine Basal cell carcinoma Vertebral fusion Colitis Hamartoma Fibroma Relative macrocephaly Neoplasm of the skin Spina bifida Abnormality of the male genitalia Spina bifida occulta Short ribs Wide mouth Tetralogy of Fallot Shawl scrotum Satyr ear Talipes equinovarus Intellectual disability, severe Abnormality of the face Anteverted nares Myopia Feeding difficulties Depressed nasal bridge Flexion contracture Spasticity Aganglionic megacolon Muscular hypotonia Pseudoepiphyses of second metacarpal X-linked dominant inheritance Stahl ear Aplasia/Hypoplasia of the 3rd toe 2-4 finger syndactyly Rectoperineal fistula Recurrent urinary tract infections 3-4 toe syndactyly Prominent scrotal raphe Bilateral triphalangeal thumbs Coxa valga Pulmonary valve atresia Metatarsal synostosis Overfolding of the superior helices Dysphagia Depressed nasal ridge Urethral valve Abnormality of the genital system Death in infancy Flat face Abnormality of movement Spastic paraplegia Postnatal growth retardation Joint stiffness Thick vermilion border Telecanthus Hydronephrosis Feeding difficulties in infancy Intellectual disability, moderate Autism Micropenis Ambiguous genitalia Posteriorly rotated ears Constipation Renal agenesis Agenesis of corpus callosum Clinodactyly of the 5th finger Midface retrusion Cerebral atrophy Malar flattening Abnormality of the dentition Short nose Hypertonia Hypoplasia of penis Perineal fistula 3-4 finger syndactyly Small for gestational age Multicystic kidney dysplasia Anal stenosis Polycystic kidney dysplasia Preauricular pit Abnormality of the outer ear Preaxial hand polydactyly Microcytic anemia Overfolded helix Triphalangeal thumb Redundant skin Chorioretinal coloboma Short metatarsal Microretrognathia Tracheoesophageal fistula Preauricular skin tag Abnormal vertebral morphology Short thumb Renal dysplasia Broad thumb Bilateral sensorineural hearing impairment Everted lower lip vermilion Renal hypoplasia Vesicoureteral reflux Renal cyst Facial asymmetry Toe syndactyly Bifid scrotum Preaxial polydactyly Bifid uterus Auricular tag Lop ear Clinodactyly of the 5th toe Partial duplication of thumb phalanx Epibulbar dermoid Radial club hand Duane anomaly Aspiration Vaginal fistula Drooling Radial deviation of finger Left ventricular septal hypertrophy Polycystic ovaries Auricular pit Self-injurious behavior Tented upper lip vermilion Encephalitis Hydroureter Adactyly Rectovaginal fistula Duodenal atresia Truncus arteriosus Spastic diplegia Infantile muscular hypotonia Dysphasia Retinal coloboma Overlapping toe Heavy proteinuria Abnormality of the cardiovascular system Tenesmus Hyperactivity Cholelithiasis Hoarse voice Memory impairment Low posterior hairline High, narrow palate Joint hypermobility Smooth philtrum Synophrys Attention deficit hyperactivity disorder Thin upper lip vermilion Elevated hepatic transaminase Prominent forehead Thoracic hypoplasia Inguinal hernia Long philtrum Intellectual disability, mild Hepatomegaly High palate Poor hand-eye coordination Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Increased sensitivity to ionizing radiation Enuresis nocturna Intraventricular hemorrhage Elevated alpha-fetoprotein Sleep apnea Hypoplastic nipples Demyelinating peripheral neuropathy Venous thrombosis Alopecia Obesity Kyphosis Metrorrhagia Onychomycosis Adrenal hyperplasia Bipolar affective disorder Generalized hyperpigmentation Menorrhagia Recurrent skin infections Premature ovarian insufficiency Lipodystrophy Infertility Protuberant abdomen Lethargy Visual impairment Expressive language delay Spinal deformities Long hallux Abnormality of the mitochondrion Prolonged prothrombin time Periorbital fullness Prolonged partial thromboplastin time Upper airway obstruction Dysostosis multiplex Hyperkinesis Generalized lymphadenopathy IgM deficiency Dilated cardiomyopathy Renal artery stenosis Chronic diarrhea Progressive neurologic deterioration Neurodegeneration Confusion Progressive cerebellar ataxia Dementia Babinski sign Hyperreflexia Dysarthria Coronary artery stenosis Renovascular hypertension Intellectual disability, borderline Hemiplegia Gastritis Arterial stenosis Cutaneous finger syndactyly Increased susceptibility to fractures Cutaneous syndactyly Finger clinodactyly Bicuspid aortic valve Aortic regurgitation Decreased body weight Pulmonic stenosis Short palm Patent ductus arteriosus Cardiomegaly Megalencephaly Recurrent viral infections Sinusitis Mild global developmental delay Chronic sinusitis Bronchitis Episodic fever Recurrent sinusitis IgG deficiency IgA deficiency Scaling skin Restrictive ventilatory defect Pulmonary fibrosis Telangiectasia Clumsiness Otitis media Motor deterioration Recurrent pneumonia Dry skin Abnormality of the cerebral white matter Weight loss Respiratory failure Erythema Gait disturbance Impaired thermal sensitivity Abnormality of glycosphingolipid metabolism Progressive psychomotor deterioration Cherry red spot of the macula Supranuclear gaze palsy Osteopenia Hirsutism Angiokeratoma corporis diffusum Ischemic stroke Emphysema Clubbing Abnormal intestine morphology Diabetes insipidus Chronic kidney disease Impaired vibratory sensation Progressive hearing impairment Tinnitus Corneal dystrophy Hyperlipidemia Abnormality of the hand Reduced bone mineral density Coronary artery atherosclerosis Exercise intolerance Left ventricular hypertrophy Anorexia Nausea Chest pain Myocardial infarction Lymphedema Mitral regurgitation Subcutaneous nodule Ventricular hypertrophy Mitral valve prolapse Stage 5 chronic kidney disease Atrioventricular block Bundle branch block Muscle cramps Abnormal EKG Obstructive lung disease Mucosal telangiectasiae Abnormal endocardium morphology Chronic pain Angiokeratoma Abnormal myocardium morphology Retinal vascular tortuosity Dysesthesia Abnormal cornea morphology Wheezing Primary hypothyroidism Abnormality of the renal tubule Abnormal aortic valve morphology Glomerulopathy Miosis Restrictive cardiomyopathy Chronic obstructive pulmonary disease Achalasia Clubbing of fingers Abnormality of femur morphology Angina pectoris Transient ischemic attack Celiac disease Abnormality of lipid metabolism Abnormal autonomic nervous system physiology Anhidrosis Abdominal distention Spontaneous abortion Amenorrhea Reduced consciousness/confusion Abnormality of the gastric mucosa Erectile abnormalities Facial erythema Adrenocorticotropic hormone excess Abdominal obesity Biconcave vertebral bodies Poor wound healing Abnormality of the menstrual cycle Increased circulating ACTH level Alkalosis Menstrual irregularities Vertebral compression fractures Abnormal subcutaneous fat tissue distribution Oligomenorrhea Increased circulating cortisol level Striae distensae Hyperparathyroidism Secondary amenorrhea Abnormality of immune system physiology Decreased fertility Glucose intolerance Increased body weight Hyponatremia Hypercalcemia Hypercholesterolemia Mood changes Moon facies Vertigo Dyspnea Hematuria Paresthesia Nephropathy Juvenile onset Stroke Cough Malabsorption Delayed puberty Pruritus Corneal opacity Abnormality of the nervous system Hypertrophic cardiomyopathy Myalgia Peripheral edema Proteinuria Arthralgia Hyperkeratosis X-linked recessive inheritance Congestive heart failure Arrhythmia Respiratory insufficiency Fever Psychotic mentation Abnormal fear/anxiety-related behavior Neoplasm of the adrenal gland Dorsocervical fat pad Hypoganglionosis



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Other signs and symptoms that you may find interesting

Abnormality of the skeletal system and Headache, related diseases and genetic alterations Motor delay and Progressive cerebellar ataxia, related diseases and genetic alterations Edema and Carious teeth, related diseases and genetic alterations Myopathy and Scarring, related diseases and genetic alterations Immunodeficiency and Pneumonia, related diseases and genetic alterations