Frontal bossing, and Malabsorption

Diseases related with Frontal bossing and Malabsorption

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

Top matches:

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Other less relevant matches:

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi|vitamin d-dependency type i|vddr-i|vitamin d-dependent rickets, type 1a|vitamin d dependency, type 1|pddr1a|1-alpha, 25-hydroxyvitamin d3 deficiency, selective|25-hydroxycholecalciferol-1-hydroxylase deficiency|pddr ia|1-alpha-hydroxylase deficiency|

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

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

High 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

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

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

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Intellectual disability Micrognathia Abnormal heart morphology Hearing impairment Epicanthus Clinodactyly Ventricular septal defect Motor delay Anemia Generalized hypotonia Intrauterine growth retardation Low-set, posteriorly rotated ears Irritability Conductive hearing impairment Strabismus Hypertelorism Hepatosplenomegaly Retinopathy Hypoplasia of the ulna Abnormal vertebral morphology Abnormal cardiac septum morphology Thrombocytopenia Atrial septal defect Abnormality of the skeletal system Recurrent fractures Cataract Abnormality of the kidney Fat malabsorption Diabetes mellitus Delayed puberty Depressivity Hypergonadotropic hypogonadism Cholestasis Abnormality of the liver Cirrhosis Proptosis

Rare Symptoms - Less than 30% cases

Mitral valve prolapse Full cheeks Gastrointestinal hemorrhage Short thumb Coarctation of aorta Epistaxis Hypertriglyceridemia Flat face Finger clinodactyly Hypoplasia of the radius Dehydration Abnormality of the ribs Intellectual disability, mild Patent ductus arteriosus Hypercholesterolemia Absent thumb Ventriculomegaly Renal tubular acidosis Exocrine pancreatic insufficiency Hypertension Depressed nasal bridge Cleft palate Abnormal pupil morphology Vitamin D deficiency Osteomalacia Hyperparathyroidism Abnormality of cardiovascular system morphology Oligodactyly Short humerus Bowing of the legs Azoospermia Hyperglycemia Urogenital fistula Coronal craniosynostosis Abnormality of the ureter Hallux valgus Spina bifida occulta Renal dysplasia Prominent nose Vesicoureteral reflux Anal atresia Renal insufficiency Broad forehead Craniosynostosis Areflexia Cryptorchidism Brachycephaly Prominent forehead Behavioral abnormality Hydrocephalus Downslanted palpebral fissures Delayed skeletal maturation Myopia Upslanted palpebral fissure Nystagmus Acidosis Deeply set eye Protruding ear Scoliosis Abnormality of the carpal bones Hypophosphatemia Absent radius Flat occiput Intrahepatic cholestasis Hypoplasia of dental enamel Delayed eruption of teeth Vomiting Muscular hypotonia Hypogonadism Hypothyroidism Steatorrhea Prolonged neonatal jaundice Pigmentary retinopathy Optic atrophy Asthma Coma Abnormal facial shape Polyneuropathy Diarrhea Splenomegaly Posteriorly rotated ears Nausea Aminoaciduria Renal tubular dysfunction Hepatitis Type I diabetes mellitus Jaundice Rickets Elevated hepatic transaminase Hepatic failure Camptodactyly Visual impairment Stiff skin Elevated erythrocyte sedimentation rate Increased antibody level in blood Leukocytosis Episcleritis Stridor Psoriasiform dermatitis Lipodystrophy Snoring Broad finger Sleep apnea Microcytic anemia Prominent metopic ridge Plagiocephaly Osteolysis Elbow flexion contracture Cervical lymphadenopathy Neurodevelopmental delay Insulin resistance Maternal diabetes Abnormality of cardiovascular system physiology Aspiration Bilateral ptosis Panniculitis Hyperplasia of the maxilla Communicating hydrocephalus Histiocytosis Reticulocytopenia Skin nodule Corneal arcus Nasal obstruction Recurrent pharyngitis Chronic rhinitis Decreased serum testosterone level Generalized lymphadenopathy Varicose veins Glycosuria Aspiration pneumonia Abnormal eyebrow morphology Myelofibrosis Enlarged kidney Severe sensorineural hearing impairment Episodic fever Facial telangiectasia Polycythemia Pancreatic hypoplasia Lipoatrophy Scleroderma Abnormality of the upper urinary tract Gynecomastia Hyperreflexia Hyperkeratosis Contractures of the joints of the lower limbs Severe short stature Pneumonia Alopecia Hernia Edema Anteverted nares Fever Wide nasal bridge Brachydactyly Abnormality of the pancreatic islet cells Dyspnea Flexion contracture Ptosis Sensorineural hearing impairment 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 Micropenis Pes planus Hyperpigmentation of the skin Hypovolemia Ketonuria Autoimmune antibody positivity Gingival overgrowth Telangiectasia Upper eyelid edema Bronchiectasis Primary amenorrhea Hypertrichosis Blue sclerae Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Apnea Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Cleft upper lip Ichthyosis Lymphadenopathy Abnormality of the foot Hypotrichosis Transient neonatal diabetes mellitus Pectus carinatum Bilateral camptodactyly Downturned corners of mouth Apraxia Keloids Abnormality of epiphysis morphology Generalized hypopigmentation Stereotypy Atelectasis Hyperphosphaturia Amblyopia Buphthalmos Lacrimation abnormality Nephrolithiasis Abnormality of the renal tubule Dental crowding Cheilitis Renal Fanconi syndrome Clonus Subcutaneous nodule Proximal renal tubular acidosis Abnormality of the metaphysis Open mouth Osteoarthritis Oligosacchariduria Sparse scalp hair Fine hair Chorioretinal dysplasia Aciduria Increased serum lactate Abnormal bleeding Taurodontia Periodontitis Everted lower lip vermilion Glomerulonephritis Glomerulopathy Abnormal joint morphology Multiple renal cysts Pathologic fracture Congenital glaucoma Dysphasia Open bite Diabetes insipidus Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Abnormality of the voice Skin ulcer Hypokalemia Hypercalciuria Deep philtrum Reduced number of teeth Neoplasm of the skin Abnormality of dental enamel Narrow palate Nephrocalcinosis Joint contracture of the hand Patellar dislocation Atypical scarring of skin Gingivitis Hyperaldosteronism Metabolic acidosis Hematuria Retroperitoneal fibrosis Dense posterior cortical cataract Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Glaucoma Bicarbonaturia Abnormality of dentin Lentiglobus Recurrent respiratory infections Constipation Wrist swelling Inguinal hernia Hypoammonemia Hyporeflexia Weight loss Elevated amniotic fluid alpha-fetoprotein Microphthalmia Long philtrum Generalized tonic-clonic seizures Kyphosis Arthrogryposis multiplex congenita Abnormality of the dentition Blindness Joint swelling Respiratory insufficiency Generalized myoclonic seizures Feeding difficulties Cognitive impairment Seborrheic keratosis Finger swelling Periventricular cysts Joint hypermobility Camptodactyly of finger Abnormality of calcium-phosphate metabolism Long face Elevated serum acid phosphatase Papillary thyroid carcinoma Joint hyperflexibility Genu valgum Carious teeth Congenital cataract Platyspondyly Hip dislocation Corneal opacity Attention deficit hyperactivity disorder Joint stiffness Reduced visual acuity Feeding difficulties in infancy Intellectual disability, moderate Aggressive behavior Proteinuria Benign neoplasm of the central nervous system Anxiety Arthritis Neonatal hypotonia EEG abnormality Thin upper lip vermilion Umbilical hernia Gastroesophageal reflux Mandibular prognathia Axenfeld anomaly Clinodactyly of the 5th finger Band keratopathy Deformed rib cage Bradycardia Atrial fibrillation Abnormality of the cardiovascular system Bruising susceptibility Polydactyly Pectus excavatum Syndactyly Respiratory distress Fatigue Subperiosteal bone resorption Bulging of the costochondral junction Secondary hyperparathyroidism Horseshoe kidney Sparse bone trabeculae Enlargement of the ankles Bulging epiphyses Enlargement of the costochondral junction Abdominal wall muscle weakness Enlargement of the wrists Fibular bowing Widely patent fontanelles and sutures Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Hypophosphatemic rickets Aortic valve stenosis Aortic regurgitation Elevated circulating parathyroid hormone level Down-sloping shoulders Short digit Aplasia of the ulna Partial duplication of thumb phalanx Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Truncus arteriosus Eosinophilia Heart block Short clavicles Thoracic scoliosis Atrioventricular canal defect Limited elbow extension Petechiae Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Triphalangeal thumb Atrioventricular block Thin bony cortex Delayed epiphyseal ossification Aplasia of the pectoralis major muscle Relative macrocephaly Gait ataxia Rod-cone dystrophy Encephalopathy Headache Tremor Dysarthria Peripheral neuropathy Spasticity Ataxia Interstitial pneumonitis Chronic lung disease Prominent occiput Abnormal intestine morphology Mental deterioration Short chin Chronic diarrhea Abnormal lung morphology Dolichocephaly Autoimmunity Respiratory failure Macrocephaly Low-set ears Giant cell hepatitis Abnormality of the coagulation cascade Hyperbilirubinemia Single transverse palmar crease Photophobia Confusion Protuberant abdomen Apathy Tibial bowing Femoral bowing Metaphyseal irregularity Elevated alkaline phosphatase Hypocalcemia Bone pain Inability to walk Difficulty walking Biliary tract abnormality Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Spastic paraparesis Unsteady gait Paraparesis Bilateral single transverse palmar creases Sensorimotor neuropathy Hemiparesis Intention tremor Status epilepticus Type II diabetes mellitus Migraine Sensory impairment Sensory neuropathy Distal sensory impairment Peripheral axonal neuropathy Mesoaxial polydactyly Tibial torsion Biliary atresia Stage 5 chronic kidney disease Renal hypoplasia Nephrotic syndrome Tetralogy of Fallot Specific learning disability Round face Triangular face Hypodontia Microcornea Hypopigmentation of the skin Short distal phalanx of finger Abnormality of skin pigmentation Pulmonic stenosis Exotropia Pruritus Short philtrum Stroke Scarring Carcinoma Coarse facial features Macrotia Visual loss Dilatation Congestive heart failure Neoplasm Unilateral radial aplasia Abnormal form of the vertebral bodies Lymphedema Anomalous splenoportal venous system Posterior embryotoxon Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Peripheral pulmonary artery stenosis Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Keratoconus Pointed chin Telangiectasia of the skin Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Heart murmur Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Multicystic kidney dysplasia Hemivertebrae Aphalangy of the hands Midface capillary hemangioma Lactose intolerance Underdeveloped nasal alae Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow nasal bridge Tracheoesophageal fistula Trigonocephaly Failure to thrive in infancy Abnormality of the metacarpal bones Narrow face Large fontanelles Bowing of the long bones Pancytopenia Hypotelorism Lymphoma Aplasia/Hypoplasia of the radius Bifid uvula Polymicrogyria Facial asymmetry Prominent nasal bridge Skin rash Hydronephrosis Narrow mouth Agenesis of corpus callosum Short nose High palate Quadricuspid aortic valve Patellar subluxation Fibular hypoplasia Carpal synostosis Carpal bone aplasia Limited elbow movement Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Hand oligodactyly Shallow orbits Patellar hypoplasia Anterior plagiocephaly Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Chromosome breakage Elevated hemoglobin A1c


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Pancytopenia, related diseases and genetic alterations Low-set ears and Ambiguous genitalia, related diseases and genetic alterations Anemia and Limb-girdle muscular dystrophy, related diseases and genetic alterations Scoliosis and Bradycardia, related diseases and genetic alterations Scoliosis and Genu valgum, related diseases and genetic alterations Global developmental delay and Hyperlipidemia, related diseases and genetic alterations