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:
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
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
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
More info about RIDDLE SYNDROME
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Other less relevant matches:
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
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
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
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
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
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
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