Hepatomegaly, and Split hand

Diseases related with Hepatomegaly and Split hand

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

Top matches:

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Other less relevant matches:

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Split hand

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Split hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Talipes equinovarus

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Short stature Abnormal heart valve morphology Osteopenia Dolichocephaly Dysostosis multiplex Macrocephaly Inguinal hernia Kyphosis Cardiomyopathy Depressed nasal bridge Abnormality of the skeletal system Hernia Pneumonia Growth delay Splenomegaly Hydrocephalus Micrognathia Coarse facial features Hypertelorism Strabismus Macroglossia Proptosis Umbilical hernia Epicanthus Microcephaly Severe short stature Cleft palate Long philtrum Recurrent respiratory infections Congestive heart failure Generalized hypotonia Retinopathy Myelopathy Intellectual disability, severe Hirsutism Progressive neurologic deterioration Intrauterine growth retardation Corneal opacity Joint stiffness Urinary glycosaminoglycan excretion Retinal fold Hypospadias Obstructive sleep apnea Cleft upper lip Short neck Wide nasal bridge High, narrow palate Encephalocele Delayed skeletal maturation Sleep apnea Corneal dystrophy Abnormality of the kidney Recurrent upper respiratory tract infections Low-set ears Dermatan sulfate excretion in urine Aortic regurgitation High palate Sleep disturbance Opacification of the corneal stroma Diarrhea Glaucoma Frontal bossing Optic atrophy Synophrys Hip dysplasia Conductive hearing impairment Widely spaced teeth Hypertension Toe syndactyly Renal cyst Flexion contracture Cognitive impairment Ptosis Atrial septal defect Heparan sulfate excretion in urine Nystagmus Hepatosplenomegaly Apnea Abnormality of cardiovascular system morphology Flared iliac wings Ataxia Anteverted nares Delayed speech and language development Delayed eruption of teeth Behavioral abnormality Thickened skin Thickened calvaria Scoliosis Talipes Severe global developmental delay Muscular hypotonia Feeding difficulties Hypertrichosis Recurrent otitis media Hypoplasia of the odontoid process Retrognathia Elbow flexion contracture High forehead

Rare Symptoms - Less than 30% cases

Low posterior hairline Finger syndactyly Prominent nasal bridge Heart murmur Diastasis recti Retinal degeneration Aplasia/Hypoplasia of the cerebellum Cortical dysplasia Primary adrenal insufficiency Aspiration pneumonia Hypertrophic cardiomyopathy Respiratory tract infection Hip dislocation Cardiomegaly Megalocornea Gingival overgrowth Abnormality of the urinary system Abnormality of the thorax Mucopolysacchariduria Flared metaphysis Palpebral edema Protuberant abdomen Congenital diaphragmatic hernia Skeletal dysplasia Large sella turcica Abnormality of the gingiva Preaxial hand polydactyly Abnormal heart morphology Choanal atresia Pulmonary hypoplasia Micromelia Short philtrum Agenesis of corpus callosum Clinodactyly Absent hand Long eyelashes Aplasia cutis congenita of scalp Porencephalic cyst Calvarial skull defect Oligodactyly Thrombocytopenia Cutis marmorata Syndactyly Hypertonia Ventricular septal defect Abnormal vertebral morphology Abnormal form of the vertebral bodies Atlantoaxial dislocation Brachydactyly Thoracolumbar kyphoscoliosis Bullet-shaped phalanges of the hand Highly arched eyebrow Downturned corners of mouth Sensorineural hearing impairment Vomiting Abnormality of the dentition Headache Prominent forehead Pallor Interphalangeal joint contracture of finger Craniosynostosis Camptodactyly of finger Abnormality of eye movement Thick eyebrow Abnormal cardiac septum morphology Wide nose Microdontia Cryptorchidism Aspiration Progressive hearing impairment Generalized hirsutism Pulmonic stenosis Prominent sternum Decreased body weight Aortic valve stenosis Metaphyseal widening Spinal canal stenosis Ovoid vertebral bodies Constrictive median neuropathy Cervical myelopathy Genu valgum Cataract Skeletal muscle atrophy Ventriculomegaly Hypoplasia of the corpus callosum Dilatation Pectus excavatum Lumbar hyperlordosis Edema Neonatal hypotonia Tetraplegia Hyperactivity Cerebral cortical atrophy Visual impairment Pes cavus Abnormality of the cerebral white matter Neurodegeneration Asthma Cervical cord compression Spastic tetraplegia Intellectual disability, profound Tetraparesis Hoarse voice Spastic tetraparesis Pachygyria Scaphocephaly Visual loss Incoordination Elevated hepatic transaminase Polymicrogyria Ascites Progressive visual loss Abnormality of the gastrointestinal tract Chronic otitis media Oral cleft Hypoplastic labia majora Anal atresia Disproportionate tall stature Cleft lip Polydactyly Posteriorly rotated ears Cerebral atrophy Bifid uvula Short nose Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Abnormality of the immune system Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Postaxial polydactyly Decreased testicular size Renal agenesis Hemangioma Hamartoma Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Hypoplastic toenails Sacral dimple Hand polydactyly Genu varum Laryngomalacia Renal hypoplasia/aplasia Abnormality of the outer ear Aplastic/hypoplastic toenail Joint dislocation Short ribs Hepatic fibrosis Renal dysplasia Bowing of the long bones Esophagitis Depressed nasal ridge Ambiguous genitalia Oligohydramnios Postaxial hand polydactyly Limb undergrowth Specific learning disability Hand oligodactyly Perimembranous ventricular septal defect Chylothorax Aplasia/Hypoplasia of the nipples Coarctation of aorta Tetralogy of Fallot Aplasia/Hypoplasia of the lungs Recurrent hypoglycemia Short sternum Sclerocornea High anterior hairline Short hallux Rib fusion Abdominal situs inversus Nail dysplasia Tethered cord Small nail Esotropia Abnormality of the philtrum Gastrointestinal hemorrhage Premature birth Short distal phalanx of finger Abnormal lip morphology Cirrhosis Abnormality of the gallbladder Volvulus Panhypopituitarism Rib segmentation abnormalities Pulmonary arterial hypertension Hemiparesis Submucous cleft hard palate Pulmonary artery stenosis Periventricular leukomalacia Abnormality of the vertebral column Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Optic nerve coloboma Double outlet right ventricle Central hypotonia Telangiectasia Thick upper lip vermilion Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Hypoplastic left heart Supernumerary nipple Abnormality of the mouth Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Occipital encephalocele Median cleft lip Foot polydactyly Hypoplastic radial head Otitis media with effusion Gastroparesis Triangular face Microcornea Tapered finger 2-3 toe syndactyly Single transverse palmar crease Small hand Reduced renal corticomedullary differentiation Abnormality of the umbilicus Ectopic kidney Dysplastic tricuspid valve Sepsis Downslanted palpebral fissures Supernumerary ribs Thin vermilion border Osteoporosis Phocomelia Low-set, posteriorly rotated ears Vertigo Astigmatism Small for gestational age Microtia Autistic behavior Malrotation of colon Vesicoureteral reflux Postnatal growth retardation Spontaneous abortion Self-injurious behavior Short metatarsal Deep philtrum Esophageal stenosis Hypertropia Hypoplasia of the radius Proximal placement of thumb Clubbing Tricuspid regurgitation Relative macrocephaly Torticollis Left-to-right shunt Duplication of internal organs Hypoplastic male external genitalia Curly eyelashes Increased body weight Low anterior hairline Recurrent urinary tract infections Short middle phalanx of finger Renal hypoplasia Blue sclerae High myopia Projectile vomiting Otitis media Webbed neck Opisthotonus Abnormality of the pinna Pyloric stenosis Cerebral cortical hemiatrophy Monorchism Ectrodactyly Short thumb Microtia, third degree Oral synechia Poor appetite Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Hiatus hernia Rectal atresia Absent testis Perineal fistula Abnormality of the genital system Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Abnormality of the tongue Rectovaginal fistula Short tibia Absent crus of helix Neoplasm Limited elbow extension Dislocated radial head Abnormality of digit Camptodactyly Abnormality of the foot Telecanthus Weak cry Abnormality of movement Aggressive behavior Proteinuria Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Mandibular prognathia Decreased fetal movement Autism Arachnodactyly Iris coloboma Narrow mouth Brachycephaly Hypodontia Hyperhidrosis Clinodactyly of the 5th finger Fever Myopia Anemia Hypoplastic nipples Peters anomaly Tracheal stenosis Leukemia Thin skin Recurrent bronchitis Flat acetabular roof Corneal erosion Radial bowing Severe postnatal growth retardation Vertebral fusion Pathologic fracture Pericardial effusion Short long bone Congenital hip dislocation Recurrent pneumonia Sparse and thin eyebrow Narrow forehead Lack of skin elasticity Wide intermamillary distance Brain atrophy Short palm Joint laxity Weight loss Blindness Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Hypoplastic scapulae Abnormality of the rib cage Enterocolitis Abdominal pain Inability to walk Abnormality of skin pigmentation Dry skin Carious teeth Pectus carinatum Stroke Nyctalopia Abnormal pyramidal sign Wide mouth Mental deterioration Kyphoscoliosis Dyspnea Constipation Carpal bone hypoplasia Arrhythmia Depressivity Respiratory insufficiency Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Progressive alveolar ridge hypertropy Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Broad alveolar ridges Cavernous hemangioma Abnormality of nervous system morphology Cerebral dysmyelination Bile duct proliferation Everted lower lip vermilion Pigmentary retinopathy Waddling gait Hypothyroidism Respiratory distress Retinoschisis Tracheobronchomalacia Intestinal pseudo-obstruction Papilledema Mild short stature Intellectual disability, progressive Exercise intolerance Abnormality of retinal pigmentation Thick lower lip vermilion Postural instability Epiphyseal dysplasia Attention deficit hyperactivity disorder Rod-cone dystrophy Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Central nervous system degeneration Visceromegaly Asymmetric septal hypertrophy Restlessness Coarse hair Growth abnormality Limb ataxia Dementia Accelerated skeletal maturation Metaphyseal irregularity Corpus callosum atrophy Abdominal distention Undetectable electroretinogram Adrenal hypoplasia Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Hammertoe Decreased nerve conduction velocity Large fontanelles Heterotopia Cholestasis Peripheral demyelination Gliosis Hepatic steatosis Aseptic necrosis Abnormality of the liver Feeding difficulties in infancy Polyhydramnios Upslanted palpebral fissure Cerebellar atrophy Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical instability Broad ribs Disproportionate short-trunk short stature Hypoplastic iliac wing Thoracic kyphosis Thick vermilion border Broad nasal tip Sparse hair Hip subluxation Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Calvarial hyperostosis Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology J-shaped sella turcica Abnormality of the tonsils Anterior rib cupping Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Biconcave vertebral bodies Chronic rhinitis Recurrent ear infections Calcification of falx cerebri C1-C2 subluxation Diaphyseal thickening Increased size of nasopharyngeal adenoids EEG abnormality Cerebellar hypoplasia Alopecia Patent ductus arteriosus Microphthalmia Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Abnormality of the wing of the ilium Enlarged tonsils Broad long bone diaphyses Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Abnormal diaphysis morphology Delayed ossification of carpal bones Full cheeks Cerebral palsy Restrictive ventilatory defect Coronary artery atherosclerosis Multiple joint contractures Metatarsus adductus Toe walking Stridor Language impairment Hemiplegia Back pain Prominent supraorbital ridges Increased intracranial pressure Hyperammonemia Coxa vara Rhinitis Abnormality of dental enamel Spastic paraparesis Coxa valga Exotropia Abnormality of epiphysis morphology Chronic diarrhea Left ventricular hypertrophy Mitral regurgitation Myocardial infarction Abnormality of the ribs Abnormality of the cardiovascular system Abnormality of the skin Limitation of joint mobility Arthropathy Thoracic scoliosis Broad femoral neck Angina pectoris Rhinorrhea Abnormality of peripheral nerve conduction Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Cor pulmonale Conical tooth Hypoplastic ilia Protruding tongue Upper airway obstruction Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Abnormality of the respiratory system Gingivitis Abnormality of the clavicle Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Peripheral visual field loss Short clavicles Hypoplastic pubic rami


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