Frontal bossing, and Telangiectasia

Diseases related with Frontal bossing and Telangiectasia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Telangiectasia that can help you solving undiagnosed cases.

Top matches:

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Other less relevant matches:

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Telangiectasia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Telangiectasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Cataract

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Hypogonadism Hypothyroidism Atrial septal defect Abnormality of the kidney Ventriculomegaly Arteriovenous malformation Scoliosis Multiple cafe-au-lait spots Carcinoma Leukemia Hypopigmentation of the skin Generalized hypotonia Overgrowth Delayed skeletal maturation Epicanthus Downslanted palpebral fissures Depressed nasal bridge Ventricular septal defect Polymicrogyria Macrocephaly Muscular hypotonia Abnormality of cardiovascular system morphology Strabismus Deeply set eye Cryptorchidism Abnormality of the skeletal system Seizures Patent ductus arteriosus Telangiectasia of the skin Cutis marmorata Abnormal heart morphology Cognitive impairment Intrauterine growth retardation Wide nasal bridge Muscle weakness Brachydactyly High palate Anteverted nares Sensorineural hearing impairment Lymphoma Cleft palate Tetralogy of Fallot Anemia Abnormality of the liver Flat face Conductive hearing impairment Small for gestational age Upslanted palpebral fissure Microphthalmia Low-set ears Meningioma Clinodactyly Intellectual disability, mild Anal atresia Myopia Hepatomegaly Abnormal facial shape Clinodactyly of the 5th finger Myopathy Diarrhea Finger syndactyly Feeding difficulties Alopecia Prominent forehead Hyperkeratosis Postnatal growth retardation Abnormal cardiac septum morphology Hand polydactyly Abnormality of skin pigmentation Edema Toe syndactyly Visual impairment Cranial nerve paralysis Squamous cell carcinoma

Rare Symptoms - Less than 30% cases

Hypergonadotropic hypogonadism Progressive macrocephaly Skin erosion Camptodactyly Absent thumb Low-set, posteriorly rotated ears Arterial stenosis Anteriorly placed anus Pes planus Proptosis Micropenis Cavum septum pellucidum Diabetes mellitus Dilation of lateral ventricles Posteriorly rotated ears Severe short stature Abnormality of the upper limb Pyloric stenosis Neoplasm of the skin Abnormal eyebrow morphology Reticulocytopenia Type I diabetes mellitus Azoospermia Flexion contracture Hypertension Hypertrichosis Mandibular prognathia Hip dislocation Short thumb Cleft upper lip Abnormality of the foot Short foot Cutis marmorata telangiectatica congenita Hypodontia Growth hormone deficiency Short palpebral fissure Microcornea Abnormality of chromosome stability Absent radius Ataxia Pointed chin Hypercholesterolemia Renal hypoplasia/aplasia Hypoplasia of the ulna Exocrine pancreatic insufficiency Acute myeloid leukemia Abnormality of the vasculature Coronal craniosynostosis Megalencephaly Abnormality of the uterus Macule Abnormality of the testis Hypopigmented skin patches Gynecomastia Delayed speech and language development Cafe-au-lait spot Kyphosis Headache Autism Abnormal vertebral morphology Exotropia Annular pancreas Nystagmus Fever Narrow mouth Hyperreflexia Congestive heart failure Renal insufficiency Dilatation Ptosis Microcephaly Brachycephaly Hypertriglyceridemia Hepatosplenomegaly Hypospadias Abnormality of the eye Abnormality of vision Retinopathy Malabsorption Delayed puberty Abnormality of the ribs Coarctation of aorta Varicose veins Duodenal stenosis Skin rash Basal cell carcinoma Dolichocephaly Neurological speech impairment Hernia Melanoma Osteoporosis Vomiting Pain Erythema Asymmetric growth Broad forehead Abnormality of nervous system morphology Oral cleft Visceral angiomatosis Joint hypermobility Nevus flammeus Nevus Broad thumb Hypermelanotic macule Lipoma Delayed gross motor development Intracranial hemorrhage Abnormal blistering of the skin Multiple lipomas Hamartoma Irregular hyperpigmentation Hashimoto thyroiditis Capillary hemangioma Cutaneous photosensitivity Lymphedema Thyroid carcinoma Intestinal polyposis Hamartomatous polyposis Subcutaneous hemorrhage Subcutaneous nodule Sparse hair Foot polydactyly Stroke Osteosarcoma Skeletal muscle atrophy Facial asymmetry Poikiloderma Acantholysis High forehead Arrhythmia Reduced bone mineral density Long philtrum Joint hyperflexibility Acrokeratosis Pectus excavatum Optic atrophy Hemangioma Concave nasal ridge Macrotia Arnold-Chiari type I malformation Arnold-Chiari malformation Vesicoureteral reflux Multicystic kidney dysplasia Short nose Abnormality of the skin Full cheeks Hydroureter External ear malformation Clubbing of toes Glucose intolerance Hearing abnormality Hypoplastic anemia Decreased fertility in males Aplasia/Hypoplasia of the radius Congenital talipes calcaneovalgus Abnormality of blood and blood-forming tissues Hypoplastic female external genitalia Ectopic kidney Chromosomal breakage induced by crosslinking agents Myelodysplasia Myeloid leukemia Triphalangeal thumb Tracheoesophageal fistula Abnormal localization of kidney Chromosome breakage Widened subarachnoid space Abnormal aortic valve morphology Bifid ribs Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Abnormal aortic morphology Primary hypothyroidism Hyperinsulinemia Duplicated collecting system Abnormality of the hypothalamus-pituitary axis Meckel diverticulum Acute monocytic leukemia Abnormality of femur morphology Partial duplication of thumb phalanx Bicornuate uterus Low-grade fever Abnormality of the thumb Bilobate gallbladder Aplastic anemia B-cell lymphoma Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Abnormal renal morphology Abnormality of the ulna Abnormal eyelid morphology 11 pairs of ribs Sloping forehead Abnormality of the urinary system Skin nodule Abnormality of the cerebral ventricles Panniculitis Facial telangiectasia Abnormality of the renal pelvis Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Nasal obstruction Snoring Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Aspiration pneumonia Solitary renal cyst Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Episcleritis Abnormal parietal bone morphology Leukopenia Vertigo Horseshoe kidney Bone marrow hypocellularity Spina bifida Insulin resistance Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Pancytopenia Oligohydramnios Compensated hypothyroidism Renal agenesis Neutropenia Bruising susceptibility Astigmatism Stiff skin Irritability Hypertrophic cardiomyopathy Umbilical hernia Weight loss Thrombocytopenia Respiratory distress Fatigue Aplasia/Hypoplasia involving bones of the feet Hyperplastic labia majora Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Absent testis Cerebral atrophy Almond-shaped palpebral fissure Delayed cranial suture closure Clitoral hypertrophy Congenital sensorineural hearing impairment Abnormality of the optic disc Hemiplegia/hemiparesis Metatarsus adductus Abnormality of the anus Gastric ulcer Failure to thrive in infancy Dysphasia Abnormality of the mandible Polyphagia High hypermetropia Infantile spasms Abnormality of female external genitalia Self-injurious behavior Expressive language delay Abnormal heart valve morphology Aortic arch aneurysm Hypoplastic labia minora Muscle flaccidity Narrow palpebral fissure Spastic tetraparesis Abnormal intestine morphology Leukoencephalopathy Leukocytosis Patent foramen ovale Bicuspid aortic valve Aplasia/Hypoplasia of the corpus callosum Sacral dimple Scrotal hypoplasia Abnormality of brain morphology Infantile muscular hypotonia Lambdoidal craniosynostosis Impaired social interactions Abnormal external genitalia Left ventricular noncompaction Self-mutilation Hiatus hernia Ocular albinism Short 5th finger Delayed closure of the anterior fontanelle Abnormality of the spleen Redundant neck skin Epileptic spasms Missing ribs Volvulus Abnormality of the gastrointestinal tract Optic nerve coloboma Lower limb asymmetry Delayed CNS myelination Overweight Abnormal lung lobation Abnormality of the immune system Biliary tract abnormality Abnormal corpus callosum morphology Absent septum pellucidum Slender long bone Neuroblastoma Congenital hypothyroidism Periventricular leukomalacia Abnormal left ventricle morphology Rib fusion Abnormal renal physiology Colpocephaly Thickened helices Submucous cleft hard palate Aortic root aneurysm Spinal canal stenosis Horizontal eyebrow Talipes valgus Abnormal carotid artery morphology Neonatal hypotonia Constipation Agenesis of corpus callosum Pes cavus Cerebral cortical atrophy Gastroesophageal reflux EEG abnormality Hydronephrosis Absent speech Aggressive behavior Feeding difficulties in infancy Abnormality of the pinna Abnormality of the hairline Joint stiffness Blepharophimosis Obesity Midface retrusion Camptodactyly of finger Pyridoxine-responsive sideroblastic anemia Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the preputium Abnormality of the neck Gait disturbance Dysphagia Hypoplasia of the corpus callosum Cardiomyopathy Behavioral abnormality Malar flattening Coloboma Microtia Generalized hirsutism Abnormal social behavior Interphalangeal joint contracture of finger Cranial nerve VI palsy Ventricular hypertrophy Tetraparesis Depressed nasal ridge Mitral regurgitation Pachygyria Optic disc pallor Heterotopia Decreased body weight Large fontanelles Stereotypy Short phalanx of finger Wide anterior fontanel Hypsarrhythmia Hypoplasia of penis Dilated cardiomyopathy Renal cyst Abnormality of the cerebral white matter Oppositional defiant disorder Hypermetropia Synophrys Poor speech Hepatic steatosis Asymmetry of the ears Epileptic encephalopathy Noncompaction cardiomyopathy Bifid uvula Brain atrophy Delayed myelination Intestinal malrotation Hip dysplasia Hallux valgus Increased intracranial pressure Hyperglycemia Proportionate short stature Jaundice Coarse facial features Acidosis Areflexia Visual loss Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Iris atrophy Aplasia/Hypoplasia of the patella Patellar aplasia Rectovaginal fistula Aplasia/Hypoplasia of the thumb Protruding ear Increased number of teeth Skin vesicle Agenesis of permanent teeth Premature graying of hair Sarcoma Dermal atrophy Congenital hip dislocation Microdontia Delayed eruption of teeth Small hand Short palm Nail dystrophy Corneal opacity Skeletal dysplasia Elevated hepatic transaminase Craniosynostosis Glaucoma Cholestasis Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Heart murmur Glomerulosclerosis Portal hypertension Corneal dystrophy Spina bifida occulta Finger clinodactyly Hemivertebrae Renal dysplasia Abnormal form of the vertebral bodies Renal hypoplasia Scarring Nephrotic syndrome Pigmentary retinopathy Specific learning disability Gastrointestinal hemorrhage Prominent nose Round face Triangular face Short distal phalanx of finger Hepatic failure Cirrhosis Stage 5 chronic kidney disease Pulmonic stenosis Pruritus Short philtrum Kyphoscoliosis Talipes equinovarus Keratoconus Tall stature Abnormality of the nervous system Polydactyly Syndactyly Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Neoplasm of the breast Angina pectoris Abnormality of the optic nerve Aortic aneurysm Cachexia Narrow palate Wide nose Smooth philtrum Hypoglycemia Lamellar cataract Alopecia of scalp Severe vision loss Striae distensae Erythroderma Sparse scalp hair Eczema Osteopenia Hyperhidrosis Abnormality of the dentition Cerebral ischemia Aplasia/Hypoplasia of the cerebellum Wide mouth Joint laxity Postaxial polydactyly Blue nevus Severe postnatal growth retardation Vascular ring Displacement of the external urethral meatus Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Perisylvian polymicrogyria Right aortic arch Atrial flutter Hemihypertrophy Abnormality of the lower limb Large earlobe Severe failure to thrive Syringomyelia Thick vermilion border Aplasia/Hypoplasia of the skin Abnormality of digit Cortical dysplasia Large for gestational age Nephroblastoma Redundant skin Ischemic stroke Cutis laxa Cutaneous syndactyly Shock Purpura Postaxial hand polydactyly Ascites Retinal detachment Prolonged neonatal jaundice Renal tubular acidosis Stridor Thyroid adenoma Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Intestinal polyp Merkel cell skin cancer Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Ductal carcinoma in situ Multiple trichilemmomata Bone cyst Cardiomegaly Psoriasiform dermatitis Lipodystrophy Sleep apnea Plagiocephaly Osteolysis Elbow flexion contracture Aspiration Hyperpigmentation of the skin Gingival overgrowth Bronchiectasis Primary amenorrhea Blue sclerae Epistaxis Epidermal acanthosis Bilateral sensorineural hearing impairment Lobular carcinoma in situ Mitral valve prolapse Amenorrhea Decreased testicular size Wide intermamillary distance Recurrent fractures Polyneuropathy Ichthyosis Lymphadenopathy Hypotrichosis Pectus carinatum Apnea Dyspnea Pneumonia Splenomegaly Cellular immunodeficiency Ovarian cyst Abnormality of the ureter Papillary thyroid carcinoma Immunodeficiency Tremor Motor delay Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Band keratopathy Proximal muscle weakness Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Pulmonary artery stenosis Dilatation of the cerebral artery Hepatocellular carcinoma Posterior embryotoxon Recurrent infections Intellectual disability, moderate Astrocytoma Melanocytic nevus Furrowed tongue Hydrocele testis Skin tags Prolactin excess Papilledema Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Cellulitis Cystic hygroma Abnormality of the thyroid gland Dysdiadochokinesis Papule Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Drooling Lymphopenia Chronic diarrhea Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Nausea and vomiting Agenesis of the anterior commissure


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