Hepatomegaly, and Webbed neck

Diseases related with Hepatomegaly and Webbed neck

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Webbed neck that can help you solving undiagnosed cases.

Top matches:

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Other less relevant matches:

High match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Webbed neck

Symptoms // Phenotype % cases
Short neck Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Webbed neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Lymphedema

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Edema

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Pectus excavatum

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Seizures Pleural effusion Thick vermilion border Pectus carinatum Inguinal hernia Short nose Hydrocephalus Cardiomyopathy Anteverted nares Downslanted palpebral fissures Gastroesophageal reflux Abnormality of cardiovascular system morphology Muscular hypotonia Low-set, posteriorly rotated ears Pulmonic stenosis Neoplasm Sparse hair Feeding difficulties in infancy Failure to thrive in infancy Proptosis Joint hypermobility Low-set ears Ventricular septal defect Hernia Arrhythmia Posteriorly rotated ears Feeding difficulties Wide mouth Hypertrophic cardiomyopathy Postnatal growth retardation Ptosis Ascites Hydrops fetalis Strabismus Cafe-au-lait spot High palate Failure to thrive Growth delay High, narrow palate Large for gestational age Long philtrum Patent ductus arteriosus Talipes equinovarus Hydronephrosis Neurological speech impairment Thrombocytopenia Bruising susceptibility Dysarthria Abnormal bleeding Syndactyly High forehead Respiratory failure Clinodactyly of the 5th finger Delayed skeletal maturation Dysphagia Leukemia Myopia Motor delay Coarctation of aorta Nystagmus Hemolytic anemia Redundant skin Deep philtrum Multicystic kidney dysplasia Cerebral visual impairment Overgrowth Wide nose Cerebral cortical atrophy Cerebral atrophy Dental malocclusion Low posterior hairline Microcephaly Irritability Poor suck Hyperpigmentation of the skin Neurodevelopmental delay Astigmatism Hypermetropia Frontal bossing Delayed speech and language development Hydroureter Relative macrocephaly Anemia Intestinal malrotation Abnormal heart morphology Abnormality of the genital system Abnormality of the dentition Hypertension Pulmonary lymphangiectasia Chylothorax Abnormal mitral valve morphology Abnormality of the testis Curly hair Cubitus valgus Abnormality of the skeletal system Arnold-Chiari malformation Decreased body weight Cleft palate Bilateral ptosis Macroglossia Umbilical hernia Hepatosplenomegaly Cognitive impairment Ventriculomegaly Hip dysplasia Kyphoscoliosis

Rare Symptoms - Less than 30% cases

Melanocytic nevus Abnormality of digit Verrucae Abnormality of the spleen Thickened nuchal skin fold Abnormality of the thorax Premature skin wrinkling Abnormality of the helix Abnormality of refraction Redundant neck skin Abnormality of the pulmonary artery Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the optic nerve Multiple lentigines Intestinal lymphangiectasia Prominent fingertip pads Abnormal pulmonary valve morphology Reduced factor XII activity Hyperkeratosis pilaris Puberty and gonadal disorders Abnormal location of ears Cataract Fever Abnormal dermatoglyphics Abnormality of the nervous system Joint hyperflexibility Tetraplegia Scarring Clinodactyly Facial asymmetry Genu valgum Constipation Hypogonadism Recurrent infections Broad forehead Delayed puberty Cerebellar atrophy Intellectual disability, severe Respiratory insufficiency Triangular face Respiratory tract infection Acute leukemia Wide intermamillary distance Mitral valve prolapse Intellectual disability, moderate Thick lower lip vermilion Mitral regurgitation Muscular hypotonia of the trunk Aortic valve stenosis Mandibular prognathia Prolonged bleeding time Blindness Generalized hyperpigmentation Hyperhidrosis Hyperkeratosis Macrotia Osteopenia Thick upper lip vermilion Woolly hair Short attention span Abnormal cardiac septum morphology Arnold-Chiari type I malformation Spasticity Falls Sleep disturbance Deep palmar crease Full cheeks Nevus Premature birth Growth hormone deficiency Fine hair Heart murmur Narrow palate Cutis laxa Hyperextensible skin Hemangioma Flexion contracture Prominent forehead Hypertonia Vertigo Dilatation Myeloproliferative disorder Agenesis of corpus callosum Polydactyly Hypothyroidism Hypoglycemia Cleft lip Cleft upper lip Postaxial polydactyly Renal cyst Dandy-Walker malformation Postaxial hand polydactyly Omphalocele Optic atrophy Renal dysplasia Hoarse voice Cupped ear Kyphosis Joint laxity Neuroblastoma Enlarged kidney Myopathy Broad toe Hyperextensibility of the finger joints Sensorineural hearing impairment Intellectual disability, mild Severe short stature Thickened helices Chronic otitis media Ichthyosis Breech presentation High anterior hairline Abnormality of the eye Apnea Central hypotonia Infantile spasms Overfolded helix Scaling skin Gingival overgrowth Nonimmune hydrops fetalis Tall stature Short distal phalanx of finger Cardiac arrest Inflammatory abnormality of the skin Small nail Sepsis Hypotelorism Cellulitis Hydrocele testis Malar flattening Hematuria Widely spaced teeth Triangular mouth Cirrhosis Encephalopathy Abnormal heart valve morphology Cerebellar hypoplasia Obesity Absent speech Birth length greater than 97th percentile Olfactory lobe agenesis Vesicoureteral reflux Upslanted palpebral fissure Esotropia Apraxia Tongue thrusting Functional abnormality of the gastrointestinal tract Abnormality of the fingernails Acanthosis nigricans Laryngeal cleft Generalized ichthyosis Encephalocele Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Morphological abnormality of the gastrointestinal tract Abnormal tricuspid valve morphology Long eyelashes Infantile muscular hypotonia Abnormality of the optic disc Hypoplasia of dental enamel Epidermal acanthosis Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Abnormality of the hairline Cutaneous T-cell lymphoma Tachycardia Osteoporosis Postural instability Abnormality of the hair Arthrogryposis multiplex congenita Facial hypotonia Abnormal eyebrow morphology Wide anterior fontanel Carcinoma Cavernous hemangioma Abnormality of the skin Oligohydramnios Pes cavus Short chin Pointed chin Renal insufficiency Decreased muscle mass Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Atrial fibrillation Inappropriate crying Abnormality of dental enamel Eczema Abnormality of the auditory canal Multifocal atrial tachycardia Abnormality of hair texture Abnormality of the uterus Abnormality of the ureter Anal stenosis Submucous cleft hard palate Foot polydactyly Adrenal hypoplasia Biparietal narrowing Multiple cafe-au-lait spots Meningocele Single umbilical artery Asplenia Long palpebral fissure Abnormality of the sternum Neurofibromas Abnormality of the larynx Poor appetite Aplasia/Hypoplasia of the eyebrow Malnutrition Open bite Absent eyebrow Bile duct proliferation Obsessive-compulsive behavior Cystic renal dysplasia Ambiguous genitalia, male Ectropion Sparse eyebrow Portal fibrosis Brittle hair Cerebellar dysplasia Accessory spleen Underdeveloped supraorbital ridges Atopic dermatitis Excessive wrinkled skin Dystrophic fingernails Proximal placement of thumb Abnormal aortic valve morphology Subvalvular aortic stenosis Cholelithiasis Lobulated tongue Elevated alpha-fetoprotein Slow-growing hair Gastrointestinal dysmotility Bicuspid aortic valve Abnormal myocardium morphology Delayed CNS myelination Bowing of the long bones Hepatic fibrosis Spina bifida Spontaneous abortion Alopecia of scalp Polycystic kidney dysplasia Abnormal hair pattern Preaxial polydactyly Radial deviation of finger External genital hypoplasia Abnormality of the gastrointestinal tract Occipital encephalocele Abnormality of the ulna Hypoplasia of the zygomatic bone Absent eyelashes Natal tooth Lymphoma Abnormal eyelash morphology Anencephaly Laryngomalacia Reduced subcutaneous adipose tissue Pyloric stenosis Thickened Achilles tendon Lymphangiectasis Bilateral single transverse palmar creases Ganglioneuroblastoma Reduced factor X activity Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Cerebral hypoplasia Congenital neuroblastoma Hypopnea Shyness Postprandial hyperglycemia Neural tube defect Urethral atresia Body odor Alveolar rhabdomyosarcoma Ulnar deviation of the wrist Duodenal ulcer Bladder neoplasm Systolic heart murmur Capillary malformation Melena Hematemesis Deep plantar creases Thin nail Large face Increased corneal curvature Abnormality of the foot Pericardial effusion Respiratory distress Frontal hirsutism Papilloma Occipital meningocele Arteritis Urethral obstruction Torticollis Embryonal rhabdomyosarcoma Hypoplasia of the bladder Elevated amniotic fluid alpha-fetoprotein Large placenta Neonatal sepsis Deep-set nails Abnormality of the mediastinum Reduced factor IX activity Choroid plexus papilloma Bladder carcinoma Craniorachischisis Vestibular Schwannoma Hypoplasia of olfactory tract Palmoplantar hyperkeratosis Juvenile myelomonocytic leukemia Gait disturbance Cardiomyocyte hypertrophy Loose anagen hair Reduced prothrombin activity Macrocephaly at birth Vasculitis Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Tendon rupture Deep venous thrombosis Varicose veins Aortic aneurysm Syringomyelia Obstructive sleep apnea Genital edema Intrauterine growth retardation Soft skin Hypochromic microcytic anemia Microphthalmia Neonatal hypoglycemia Talipes Anal atresia Pulmonary hypoplasia Iris coloboma Meningoencephalocele Epistaxis Tracheomalacia Microscopic hematuria Ulnar deviation of finger Rhabdomyolysis Keratoconus Monocytosis Renal agenesis Rocker bottom foot Tricuspid regurgitation B-cell lymphoma Hypoplastic toenails Bilateral cryptorchidism Cyanosis Hyperglycemia Sloping forehead Severe postnatal growth retardation Fragile nails Generalized edema Facial edema Ambiguous genitalia, female Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Spherocytosis Broad femoral neck Periorbital edema Rhabdomyosarcoma Pneumothorax Concave nail Stomatocytosis Hypoplasia of teeth Megalencephaly Highly arched eyebrow Fasting hypoglycemia Broad philtrum Asymmetric septal hypertrophy Labial hypoplasia Lack of skin elasticity Central apnea Prune belly Large forehead Achilles tendon contracture Large earlobe Progeroid facial appearance Barrel-shaped chest Abnormality of vision Abnormality of the ribs Optic nerve hypoplasia Epileptic encephalopathy Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Absent septum pellucidum Prominent occiput Elevated alkaline phosphatase Postnatal microcephaly Large fontanelles Hypsarrhythmia Generalized-onset seizure Limb undergrowth Microdontia Neuronal loss in central nervous system Delayed myelination Seborrheic dermatitis Gliosis Generalized myoclonic seizures Downturned corners of mouth Hepatic failure Abnormality of eye movement Stroke Developmental regression Neonatal hypotonia Retrognathia Narrow mouth Micropenis Myoclonus Pneumonia Hypoplasia of the corpus callosum Developmental stagnation Hemoglobinuria Anterior beaking of lower thoracic vertebrae Abnormality of coagulation Abnormal hair quantity Enlarged thorax Elevated circulating luteinizing hormone level Shield chest Elevated circulating follicle stimulating hormone level Abnormality of the mouth Pulmonary artery stenosis Acute lymphoblastic leukemia Aortic root aneurysm Thoracic scoliosis Male infertility Cystic hygroma Atrioventricular canal defect Myopathic facies Duplicated collecting system Radioulnar synostosis Abnormality of the urinary system Coarse hair Scapular winging Hypogonadotrophic hypogonadism Amblyopia Tetralogy of Fallot Otitis media Midface retrusion Brachydactyly Muscle weakness Abnormality of the pons Alveolar ridge overgrowth Micronodular cirrhosis Hyperreflexia Proximal tapering of metacarpals Abnormality of the lymphatic system Leukocytosis Poor speech Platyspondyly Corneal opacity Hyperlordosis Skeletal dysplasia Dyspnea Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Hypercoagulability Acute myeloid leukemia Myeloid leukemia Myelodysplasia Hirsutism Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Migraine Tapered finger Lymphadenopathy Nausea and vomiting Pallor Weight loss Recurrent respiratory infections Visual loss Immunodeficiency Fatigue Thick eyebrow Neurodegeneration Decreased pulmonary function Broad ribs Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Thoracolumbar kyphosis Pulmonary insufficiency Recurrent ear infections Dysostosis multiplex Spastic tetraplegia Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Pterygium Recurrent upper respiratory tract infections Opacification of the corneal stroma Broad-based gait Hypertrichosis Lumbar hyperlordosis Synovitis Prolonged QRS complex Delayed gross motor development Six lumbar vertebrae Aggressive behavior EEG abnormality Autism Alopecia Depressivity Behavioral abnormality Congestive heart failure Vomiting Ataxia Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Duplication of renal pelvis Abnormality of the kidney Penoscrotal transposition Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Short 2nd finger Penoscrotal hypospadias Embryonal neoplasm Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Telecanthus Erythema Increased IgE level Narrow forehead Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Abnormality of the nail Aspiration Thickened skin Open mouth Hemiparesis Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Pruritus Progressive visual loss Abdominal distention Palmoplantar keratoderma Hepatic steatosis Retinal dystrophy Bulbous nose Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Dry skin Hypotrichosis Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Chordee Ankyloglossia Abnormality of the mandible Aplasia of lymphatic vessels Broad nasal tip Short foot Retinal detachment Short palm Thin vermilion border Toe syndactyly Congenital cataract Finger syndactyly Camptodactyly of finger Hypospadias Wide nasal bridge Abnormality of the vestibular nerve Prominent digit pad Abnormal atrial septum morphology Nail dysplasia Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Reduced factor XI activity Abnormal platelet function Reduced factor VIII activity Unilateral ptosis Bifid uvula Hypoplasia of penis Ureteral duplication Prolonged QT interval Flared iliac wings Furrowed tongue Renal neoplasm Duodenal atresia Diastasis recti Polysplenia Low hanging columella Broad foot Abnormal lung lobation Transposition of the great arteries Broad palm Vertebral fusion Vertebral segmentation defect Supernumerary nipple Congenital diaphragmatic hernia Bundle branch block Bilateral talipes equinovarus Preauricular pit Nephroblastoma Abnormality of the voice Abnormality of the hand Accelerated skeletal maturation Narrow palpebral fissure Congenital hip dislocation Short toe Preauricular skin tag Broad thumb Clumsiness Cerebellar vermis hypoplasia Abnormality of the subarachnoid space


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