Hepatomegaly, and Blue sclerae

Diseases related with Hepatomegaly and Blue sclerae

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

Top matches:

Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Other less relevant matches:

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Blue sclerae

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed skeletal maturation Common - Between 50% and 80% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Splenomegaly Severe short stature Anteverted nares Intellectual disability Hypertelorism Brachycephaly Seizures Failure to thrive Proptosis Hydrocephalus Abnormality of the skeletal system Macrocephaly Brachydactyly Thrombocytopenia Pain Pneumonia Skeletal dysplasia Scoliosis Ptosis Generalized hypotonia Micromelia Muscular hypotonia Recurrent fractures Abnormality of epiphysis morphology Hip dislocation Hearing impairment Abnormal heart morphology Epicanthus Growth delay Edema Atrial septal defect Ventricular septal defect Talipes equinovarus Short neck Glaucoma Respiratory insufficiency Abnormality of the metaphysis Small hand Diarrhea Sensorineural hearing impairment Microdontia Hypertension Wide nasal bridge Alopecia Abnormal cardiac septum morphology Exocrine pancreatic insufficiency Gingival overgrowth Thin vermilion border Microcephaly Triangular face Malabsorption Leukemia Low-set, posteriorly rotated ears Hypoglycemia Osteolysis Fever Sleep apnea Strabismus Joint hypermobility Cognitive impairment Frontal bossing Conductive hearing impairment Micrognathia Wormian bones Narrow chest Hyperlordosis Abnormality of the dentition Prominent forehead

Rare Symptoms - Less than 30% cases

High, narrow palate Hypothyroidism Cryptorchidism Abnormally ossified vertebrae Hypoplasia of the odontoid process Osteoporosis Hypoplasia of the radius Neoplasm Overweight Metaphyseal cupping Diabetes mellitus Malar flattening Leukocytosis Genu varum Esophageal atresia Decreased antibody level in blood Varicose veins Hypertonia Joint hyperflexibility Relative macrocephaly High forehead Short thorax Abnormal facial shape Vertigo Posteriorly rotated ears Inguinal hernia Spontaneous abortion Narrow mouth Aplasia/Hypoplasia of the abdominal wall musculature Hypospadias Neutropenia Aspiration pneumonia Elevated hepatic transaminase Telecanthus Acidosis Coxa valga Type I diabetes mellitus Nystagmus Obesity Bruising susceptibility Vomiting Hyperglycemia Phocomelia Bronchiectasis Optic atrophy Low-set ears Cataract Apnea Kyphosis Disproportionate short-limb short stature Flexion contracture Aplastic anemia Flat face Hypoplastic anemia Pancreatic hypoplasia Abnormality of the urinary system Snoring Agenesis of permanent teeth Camptodactyly Abnormality of the kidney Clinodactyly of the 5th finger Intellectual disability, severe Telangiectasia Cleft palate Cleft upper lip Osteolytic defects of the phalanges of the hand Rhizomelia Osteopenia Motor delay Dilatation High palate Cardiomyopathy Mitral valve prolapse Myopia Constipation Abnormality of pelvic girdle bone morphology Scleroderma Hypertrichosis Limited elbow extension Normocytic anemia Abnormality of the face Intrauterine growth retardation Hernia Large fontanelles Broad thumb Hypotrichosis Craniosynostosis Tapered finger Short palm Platyspondyly Carious teeth Joint stiffness Respiratory tract infection Abnormality of the skin Sepsis Pectus carinatum Clinodactyly Delayed eruption of teeth Pectus excavatum Long philtrum Carpal bone hypoplasia Postural instability Elbow flexion contracture Small for gestational age Aspiration Growth hormone deficiency Lymphadenopathy Cow milk allergy Abnormality of cardiovascular system morphology Shoulder muscle hypoplasia Axial malrotation of the kidney Generalized lymphadenopathy Umbilical hernia Cardiac arrest Rheumatoid arthritis Aortic aneurysm Redundant skin Hypokalemia Tinnitus Abnormal intestine morphology Short chin Joint dislocation Congenital hip dislocation Subcutaneous nodule Deeply set eye Thin skin Osteoarthritis Communicating hydrocephalus Migraine Premature birth Abnormal bleeding Abnormality of skin pigmentation Protruding ear Arthritis Tetraphocomelia Patellar aplasia Lactose intolerance Left ventricular hypertrophy Intestinal malrotation Focal-onset seizure Tetralogy of Fallot Coarctation of aorta Ventricular hypertrophy Cerebellar vermis hypoplasia Short phalanx of finger Severe global developmental delay Spina bifida Horseshoe kidney Hemangioma Adducted thumb Intracranial hemorrhage Focal impaired awareness seizure Chronic rhinitis Abnormality of cardiovascular system physiology Megalocornea Bilateral camptodactyly Facial telangiectasia Corneal arcus Panniculitis Episcleritis Stiff skin Cervical lymphadenopathy Upper eyelid edema Broad finger Retroperitoneal fibrosis Seborrheic keratosis Cerebellar hypoplasia Agenesis of corpus callosum Hyperplasia of the maxilla Cleft lip Finger syndactyly Absent radius Nevus flammeus Edema of the dorsum of feet Bilateral radial aplasia Lateral clavicle hook Generalized tonic-clonic seizures with focal onset Cervical ribs Aplasia/Hypoplasia of the ulna Abnormality of the shoulder Meckel diverticulum Renal malrotation Fibular aplasia Intermittent thrombocytopenia Edema of the dorsum of hands Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Amegakaryocytic thrombocytopenia Tibial torsion Decreased serum testosterone level Pancreatic cysts Reticulocytopenia Allergy Carpal synostosis Patellar dislocation Cardiorespiratory arrest Chromosome breakage Duodenal atresia Delayed CNS myelination Myelofibrosis Recurrent pharyngitis Seborrheic dermatitis Histiocytosis Fused cervical vertebrae Skin nodule Aplasia of the uterus Nasal obstruction Cavum septum pellucidum Eosinophilia Peripheral arteriovenous fistula Melanocytic nevus Widely spaced teeth Low posterior hairline Choanal atresia Recurrent urinary tract infections Long eyelashes Low anterior hairline Increased body weight Torticollis Incoordination High myopia Deep philtrum Short metatarsal Pyloric stenosis Self-injurious behavior Proximal placement of thumb Clubbing Tricuspid regurgitation Renal hypoplasia Congenital diaphragmatic hernia Short middle phalanx of finger Hirsutism Prominent nasal bridge Synophrys Pulmonic stenosis Toe syndactyly Astigmatism Thick eyebrow Pulmonary hypoplasia Downturned corners of mouth Otitis media Highly arched eyebrow Single transverse palmar crease Sleep disturbance Microcornea Renal cyst Vesicoureteral reflux Webbed neck Cutis marmorata 2-3 toe syndactyly Pallor Hypertropia Hand oligodactyly Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Left-to-right shunt Short sternum Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Perimembranous ventricular septal defect Peters anomaly Ectopic kidney Poor appetite Opisthotonus Abnormality of digit Weak cry Dislocated radial head Hypoplastic nipples Oligodactyly Ectrodactyly Hiatus hernia Panhypopituitarism Esophagitis Hypoplastic labia majora Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Autistic behavior Postnatal growth retardation Aplasia/Hypoplasia of the eyebrow Periorbital edema Abnormally large globe Hematochezia Reduced consciousness/confusion Aplasia/Hypoplasia of the earlobes Abnormal pupil morphology Bladder diverticulum Pneumothorax Premature loss of primary teeth Aortic dissection Arterial stenosis Ocular pain Abnormality of hair texture Excessive wrinkled skin Ascending tubular aorta aneurysm Dermal translucency Gastrointestinal infarctions Periodontitis Gingivitis Abnormality of the gingiva Prematurely aged appearance Macule Narrow nasal bridge Telangiectasia of the skin Abnormal heart valve morphology Fragile skin Abnormal joint morphology Keratoconus Hemoptysis Transient ischemic attack Sprengel anomaly Premature loss of teeth Alopecia of scalp Dilatation of the cerebral artery Subarachnoid hemorrhage Abnormal eyelash morphology Narrow nose Abnormal oral frenulum morphology Colonic diverticula Abnormality of the pinna Hyperactivity Hypermobility of distal interphalangeal joints Feeding difficulties Delayed speech and language development Behavioral abnormality Syndactyly Headache Hyperhidrosis Autism Premature delivery because of cervical insufficiency or membrane fragility Mandibular prognathia Gastroesophageal reflux Retrognathia Thin upper lip vermilion Proteinuria Aggressive behavior Hypertrophic cardiomyopathy Hemothorax Cystocele Internal hemorrhage Pulmonary artery aneurysm Arterial dissection Cigarette-paper scars Arteriovenous fistula Absent earlobe Renovascular hypertension Enlarged kidney Normal pressure hydrocephalus Gingival recession Hypoplastic lacrimal duct Coronary artery aneurysm Molluscoid pseudotumors Spontaneous pneumothorax Foot acroosteolysis Arterial rupture Uterine rupture Uterine prolapse Arteriovenous fistulas of celiac and mesenteric vessels Abnormal eyebrow morphology Bronchiolitis Severe sensorineural hearing impairment Retinal dystrophy Glutathione synthetase deficiency Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Clumsiness Underdeveloped nasal alae Aciduria Nevus Progressive cerebellar ataxia Metabolic acidosis Lactic acidosis Chronic leukemia Elevated serum creatine phosphokinase Posterior rib cupping Ataxia Downslanted palpebral fissures Myopathy Cerebellar atrophy Cerebral atrophy Abdominal pain Dolichocephaly Cerebral cortical atrophy Kyphoscoliosis Arthralgia Abnormality of the nervous system Abnormality of the liver Skin rash Therapeutic abortion Morbilliform rash Squared iliac bones Insulin-resistant diabetes mellitus Spondyloepiphyseal dysplasia Abnormality of neuronal migration Neurodevelopmental delay Steatorrhea Glycosuria Hyperuricemia Irregular vertebral endplates Epiphyseal dysplasia Ketoacidosis Cone-shaped epiphyses of the phalanges of the hand Renal tubular dysfunction Barrel-shaped chest Acute hepatic failure Multiple epiphyseal dysplasia Preauricular pit Hepatitis Fluctuating hepatomegaly Weight loss Fluctuating splenomegaly Normocytic hypoplastic anemia Spasticity Gait disturbance Renal insufficiency Upslanted palpebral fissure Jaundice Dehydration Irritability Hypermetropia Genu valgum Hepatic failure Nephropathy Coma Severe platyspondyly Hypoplastic pubic bone Small epiphyses Bone pain Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of the fingernails Narrow palate Abnormality of the nail Increased bone mineral density Short toe Abnormal vertebral morphology Ridged nail Dentinogenesis imperfecta Congestive heart failure Reduced number of teeth Prolonged bleeding time Thin ribs Soft skin Vertebral compression fractures Fractures of the long bones Small nail Beaded ribs Midface retrusion Short distal phalanx of finger Hypodontia Hypoplasia of the maxilla Prominent nose Spondylolisthesis Small face Anterior rib cupping Protuberant abdomen Recurrent pneumonia Short long bone Prominent supraorbital ridges Metaphyseal irregularity Flat occiput Hypophosphatemia Bell-shaped thorax Limb undergrowth Delayed epiphyseal ossification Flat acetabular roof Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Wide anterior fontanel Short metacarpal Low back pain Osteolytic defects of the distal phalanges of the hand Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Spondylolysis Persistent open anterior fontanelle Short foot Abnormal pelvis bone ossification Short nose Recurrent respiratory infections Respiratory failure Polyhydramnios Wide mouth Thin bony cortex Enlarged thorax Episodic fever Long fibula Intellectual disability, mild Ventriculomegaly Hyperreflexia Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Narrow vertebral interpedicular distance Hypogonadism Mucopolysacchariduria Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Cellular immunodeficiency Abnormality of chromosome stability Diaphyseal thickening Abnormal diaphysis morphology Hypersplenism Abnormality of the distal phalanx of finger Large face Spinal dysraphism Congenital hypoplastic anemia Neonatal short-limb short stature Abnormal bone ossification Abnormal T cell morphology Patent ductus arteriosus Hyperkeratosis B-cell lymphoma Psoriasiform dermatitis Hyperpigmentation of the skin Gynecomastia Hypergonadotropic hypogonadism Plagiocephaly Azoospermia Lipodystrophy Stridor Hypertriglyceridemia Hallux valgus Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Lipoatrophy Polycythemia Primary amenorrhea Epistaxis Micropenis Polyneuropathy Dyspnea Pes planus Retinopathy Delayed puberty Abnormality of the foot Ichthyosis Full cheeks Epidermal acanthosis Wide intermamillary distance Decreased testicular size Amenorrhea Overgrowth Bilateral sensorineural hearing impairment Cardiomegaly Abnormality of the pancreas Generalized joint laxity Thoracolumbar kyphosis Ivory epiphyses of the toes Abnormality of the ribs Convex nasal ridge Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Arthrogryposis multiplex congenita Sparse hair Joint laxity Carcinoma EEG abnormality Macrotia Recurrent infections Immunodeficiency Visual impairment Irregular tarsal ossification Fine hair Chronic hepatic failure Narrow iliac wings Flattened epiphysis Central hypothyroidism Hip subluxation Decreased hip abduction Atlantoaxial dislocation Shortening of all middle phalanges of the fingers Intracerebral periventricular calcifications Transient neonatal diabetes mellitus Bilateral coxa valga Irregular carpal bones Reduced pancreatic beta cells Abnormality of pancreas morphology Ivory epiphyses of the phalanges of the hand Lumbar hyperlordosis Depressed nasal ridge Tracheal stenosis Macrocytic anemia Femoral bowing Basal cell carcinoma Tibial bowing Abnormality of the hip bone High hypermetropia Metaphyseal dysplasia Hodgkin lymphoma Squamous cell carcinoma Anal stenosis Distal arthrogryposis Thrombocytosis Upper limb undergrowth Heart block Fair hair Mesomelia Cone-shaped epiphysis Abnormal form of the vertebral bodies Hypocalcemia Bowing of the long bones Aganglionic megacolon Abnormality of retinal pigmentation Sparse and thin eyebrow Lymphopenia Short ribs Sparse eyelashes Metaphyseal widening Accelerated skeletal maturation Neoplasm of the skin Abnormal palate morphology Reduced tendon reflexes Sacral dimple Portal hypertension Dysplastic tricuspid valve


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