Hepatomegaly, and High, narrow palate

Diseases related with Hepatomegaly and High, narrow palate

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

Top matches:

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

High match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Other less relevant matches:

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

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

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON 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

Top 5 symptoms//phenotypes associated to Hepatomegaly and High, narrow palate

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases

Polyhydramnios

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Scoliosis Agenesis of corpus callosum High forehead Growth delay Failure to thrive Talipes equinovarus Macrocephaly Proptosis Prominent forehead Low-set ears Hearing impairment Ventricular septal defect Intellectual disability, severe Hernia Abnormality of the skeletal system Short stature Respiratory distress Edema Atrial septal defect Hypospadias Abnormality of cardiovascular system morphology Upslanted palpebral fissure Hydronephrosis Abnormality of the pinna Nystagmus Strabismus Patent ductus arteriosus Short toe Splenomegaly Inguinal hernia Elevated hepatic transaminase Macroglossia Hepatosplenomegaly Redundant neck skin Dental malocclusion Severe global developmental delay Apnea Coarse facial features Downslanted palpebral fissures Dandy-Walker malformation Optic atrophy Hypertension Flexion contracture Smooth philtrum Nephroblastoma Cataract Ventriculomegaly Intrauterine growth retardation Myopia Single transverse palmar crease Sparse hair Postnatal growth retardation Clinodactyly of the 5th finger Pectus excavatum Abnormality of digit Abnormality of coagulation Congenital diaphragmatic hernia Short neck Syndactyly Premature birth Everted lower lip vermilion Hepatic failure Low-set, posteriorly rotated ears Cardiomegaly Camptodactyly Cleft palate Thoracic hypoplasia Retrognathia Posteriorly rotated ears Neoplasm Dolichocephaly Short nose Renal insufficiency Abnormality of the helix

Rare Symptoms - Less than 30% cases

Large fontanelles Microtia Tapered finger Short foot Pulmonary hypoplasia Narrow mouth Ptosis Triangular face Abnormal bleeding Abnormality of the urinary system Multicystic kidney dysplasia Cleft upper lip Camptodactyly of finger Interphalangeal joint contracture of finger Jaundice Intestinal malrotation Pachygyria Flat occiput Decreased liver function Cerebral visual impairment Supernumerary nipple Knee flexion contracture Prolonged partial thromboplastin time Poor suck Trigonocephaly Broad secondary alveolar ridge Thrombocytopenia Decreased body weight Heterotopia Renal cyst Wide intermamillary distance Dysphagia Thickened nuchal skin fold Respiratory insufficiency Gastroesophageal reflux Cleft lip Ascites Hydrops fetalis Narrow chest Abnormality of dental morphology Abnormal heart morphology Cupped ear Cardiomyopathy Protruding ear Hydrocephalus Abnormality of the mitochondrion Finger syndactyly Joint hyperflexibility Clinodactyly Stage 5 chronic kidney disease Short distal phalanx of finger Aplasia/Hypoplasia of the abdominal wall musculature Hypodontia Full cheeks Omphalocele Hypoplasia of dental enamel Rhizomelia Short thorax Abnormality of the dentition Progressive neurologic deterioration Rocker bottom foot Long philtrum Pleural effusion Hypoplasia of the corpus callosum Protuberant abdomen Frontal bossing Broad toe Pyloric stenosis Clitoral hypertrophy Metatarsus adductus Cognitive impairment Abnormality of the spleen Hepatic cysts Small nail Cerebellar vermis hypoplasia Thin vermilion border Toe syndactyly Irritability Brachydactyly Broad palm Hemangioma Delayed skeletal maturation Pulmonic stenosis Polycystic kidney dysplasia Recurrent infections Thick vermilion border Joint hypermobility Low posterior hairline Large for gestational age Hypertrophic cardiomyopathy Thin upper lip vermilion Muscular hypotonia of the trunk Abnormality of the kidney Developmental regression Cubitus valgus Synophrys Abnormality of the genital system Tented upper lip vermilion Enlarged kidney Capillary hemangioma Polysplenia Renal neoplasm Sensorineural hearing impairment Neurological speech impairment Nephroblastomatosis Arrhythmia Cerebral atrophy Pancreatic islet-cell hyperplasia Intestinal lymphangiectasia Thickened helices Broad alveolar ridges Webbed neck Feeding difficulties in infancy EEG abnormality Nail dysplasia Overgrowth Severe failure to thrive Short palm Underdeveloped supraorbital ridges Hypoplasia of penis Flat face Sleep apnea Tetralogy of Fallot Retinopathy Short ribs Hepatic fibrosis Tall stature Renal dysplasia Round face Open mouth Hoarse voice Protruding tongue Primary adrenal insufficiency Abnormal hair quantity Bell-shaped thorax Epiphyseal stippling Prolonged neonatal jaundice External ear malformation Congenital glaucoma Abnormality of the mandible Abnormality of neuronal migration Albuminuria Posterior embryotoxon Adrenal hypoplasia Ulnar deviation of the hand Abnormal chorioretinal morphology Brachyturricephaly Abnormality of the lymphatic system Shield chest Elevated circulating luteinizing hormone level Myeloproliferative disorder Tapetoretinal degeneration Prolonged QRS complex Chylothorax Abnormality of the tongue Synovitis Renal cortical cysts Elevated circulating follicle stimulating hormone level Glutaric aciduria Widely patent fontanelles and sutures Abnormal mitral valve morphology Profound global developmental delay Labial hypoplasia Breech presentation Ulnar deviation of the hand or of fingers of the hand Multiple lentigines Visual impairment Unilateral ptosis Malabsorption Aplasia of the semicircular canal High anterior hairline Morphological abnormality of the inner ear Abnormal nipple morphology Abnormal anterior segment morphology Cholestasis Abnormal lymphatic vessel morphology Enlarged thorax Pigmentary retinopathy Aciduria Polymicrogyria Abnormal atrial septum morphology Corneal opacity Abnormal location of ears Skeletal dysplasia Acidosis Glaucoma Hyporeflexia Areflexia Aplasia of lymphatic vessels Premature skin wrinkling Visual loss Prominent digit pad Encephalopathy Abnormality of the vestibular nerve Malar flattening Hypoplasia of lymphatic vessels Abnormality of the mouth Prominent fingertip pads Opacification of the corneal stroma Abnormal electroretinogram Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Severe muscular hypotonia Abnormal pulmonary valve morphology Acute lymphoblastic leukemia Abnormality of refraction Reduced factor VIII activity Pulmonary lymphangiectasia Intellectual disability, progressive Pulmonary artery stenosis Abnormal platelet function Reduced factor XI activity Acute leukemia Reduced factor XII activity Hyperkeratosis pilaris Nephrocalcinosis Aminoaciduria Superior pectus carinatum Prominent nasolabial fold Amegakaryocytic thrombocytopenia Neurofibrosarcoma Leukodystrophy Puberty and gonadal disorders Wide anterior fontanel Abnormality of the testis Abnormality of the pulmonary artery Optic disc pallor Abnormality of the neck Renal cortical microcysts Abnormality of the ribs Wide nose Postaxial polydactyly Retinal detachment Broad nasal tip Bifid uvula Postaxial hand polydactyly Clumsiness Congenital cataract Broad thumb Preauricular skin tag Cardiac arrest Congenital hip dislocation Narrow palpebral fissure Accelerated skeletal maturation Relative macrocephaly Facial asymmetry Wide mouth Abnormality of the voice Aplasia of the distal phalanges of the hand Tapered toe Abnormal parietal bone morphology Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Hypoglycemia Aplasia of the distal phalanx of the hallux Blindness Obesity Polydactyly Hypothyroidism Mandibular prognathia Umbilical hernia Abnormality of the hand Preauricular pit Short proximal phalanx of hallux 2-3 finger syndactyly Hepatoblastoma Embryonal neoplasm Penoscrotal hypospadias Short 2nd finger Short sacroiliac notch Posterior helix pit Narrow sacroiliac notch Cervical ribs Birth length greater than 97th percentile Penoscrotal transposition Duplication of renal pelvis Six lumbar vertebrae Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Meckel diverticulum Chordee Bilateral talipes equinovarus Abnormal lung lobation Hydroureter Bundle branch block Prolonged QT interval Vertebral segmentation defect Vertebral fusion Transposition of the great arteries Neuroblastoma Broad foot Increased IgE level Low hanging columella Diastasis recti Duodenal atresia Furrowed tongue Flared iliac wings Ureteral duplication Ankyloglossia Abnormal pelvis bone morphology Shortening of all distal phalanges of the toes Brushfield spots Absent eyebrow Short thumb Sparse and thin eyebrow Short chin Sparse eyelashes Abnormality of pelvic girdle bone morphology Sparse eyebrow Short middle phalanx of finger Sparse scalp hair Flared metaphysis Anonychia Aplasia/Hypoplasia of the eyebrow Short finger Absent thumb Severe hearing impairment Thin ribs Short phalanx of finger Pulmonary arterial hypertension Aplasia/Hypoplasia of the thumb Microphthalmia Hyperoxaluria Subependymal cysts Elevated long chain fatty acids Very long chain fatty acid accumulation Sudanophilic leukodystrophy Intrahepatic biliary dysgenesis Hypoplastic olfactory lobes Cerebellar hypoplasia Neuronal loss in central nervous system Micropenis Macrotia Abnormal cardiac septum morphology Short philtrum Hip dislocation Hypotrichosis Hypopigmentation of the skin Abnormality of blood and blood-forming tissues Short clavicles Aplasia of the 1st metacarpal Hypoplastic facial bones Multiple skeletal anomalies Hypoplasia of the frontal lobes Renovascular hypertension Renal artery stenosis Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the clavicles Generalized neonatal hypotonia Gingival recession Abnormality of the scapula Generalized hypotrichosis Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the middle phalanges of the hand Short upper lip Inverted nipples Aplasia/Hypoplasia of the nipples Glossoptosis Sclerocornea Abnormality of finger Hypoplastic labia majora Hypoplastic scapulae Decreased skull ossification Thoracic scoliosis Absent nipple Increased nuchal translucency Premature loss of primary teeth Bilateral microphthalmos Small earlobe Aplastic clavicle Congenital microcephaly Arrhinencephaly Wide cranial sutures Aortic root aneurysm Hirsutism Curly hair Hypoglycosylation of alpha-dystroglycan Abnormality of eye movement Arthrogryposis multiplex congenita Abnormality of the liver Neonatal hypotonia Hyperkeratosis Hypertonia Skeletal muscle atrophy Hyperreflexia Anemia Spasticity Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Pontocerebellar atrophy Metabolic acidosis Type I transferrin isoform profile Abnormal myelination Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Abnormality of vision Venous thrombosis Truncal ataxia Telangiectasia Postnatal microcephaly Intention tremor Ichthyosis Underdeveloped nasal alae Delayed myelination Hypokinesia Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Cardiorespiratory arrest Distal arthrogryposis Congenital ichthyosiform erythroderma Petechiae Cerebral calcification Purpura Oligohydramnios Decreased fetal movement Pancytopenia Depressed nasal ridge Abnormality of the face Thickened skin Intracranial hemorrhage Opisthotonus Ectropion Congenital contracture Apathy Akinesia Neonatal respiratory distress Multiple joint contractures Febrile seizures Small hand Hepatic necrosis Periorbital fullness Hyperinsulinemia Growth abnormality Bilateral single transverse palmar creases Status epilepticus Lumbar hyperlordosis Abnormality of the cardiovascular system Specific learning disability Abdominal distention Hyperlordosis Deeply set eye Expressive language delay Spinal deformities Long hallux Prolonged prothrombin time Upper airway obstruction Neurodevelopmental delay Dysostosis multiplex Episodic abdominal pain Hypoplastic nipples 2-3 toe syndactyly Cholelithiasis Hyperkinesis Generalized hirsutism Memory impairment Attention deficit hyperactivity disorder Hyperactivity Abdominal pain Abnormality of metabolism/homeostasis Intellectual disability, mild Pain Global brain atrophy Hamartoma Dysmetria Ileal atresia Muscular dystrophy Prominent nasal bridge Abnormal pyramidal sign Abnormality of the eye Gait ataxia Elevated serum creatine phosphokinase Absent speech Cerebellar atrophy Myopathy Tremor Motor delay Ataxia Prominent xiphoid process Distal ileal atresia Nephrogenic rest Thick upper lip vermilion Long upper lip Volvulus Hypoxemia Visceromegaly Interrupted aortic arch Femoral hernia Intestinal atresia Lumbar scoliosis Renal hamartoma Abnormality of upper lip Fetal ascites Thymus hyperplasia Abnormality of pancreas morphology Naevus flammeus of the eyelid Hypoplasia of the abdominal wall musculature Abnormality of the spinal cord Myocardial necrosis Male infertility Severe intrauterine growth retardation Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Thoracolumbar scoliosis Nevus flammeus Delayed peripheral myelination Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Biparietal narrowing Overlapping toe Hypoplasia of the brainstem Elbow dislocation CNS hypomyelination Sacral dimple Joint dislocation Narrow palate Elbow flexion contracture Low anterior hairline Bradycardia Hyperechogenic pancreas Muscle weakness Intellectual disability, profound Aortic valve stenosis Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Myopathic facies Melanocytic nevus Abnormality of the thorax Failure to thrive in infancy Bilateral ptosis Radioulnar synostosis Coarse hair Arnold-Chiari malformation Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Cafe-au-lait spot Dysarthria Delayed puberty Midface retrusion Constipation Hypogonadism Kyphoscoliosis Pectus carinatum Broad forehead Bruising susceptibility Lymphedema Otitis media Mitral valve prolapse Coarctation of aorta Thick lower lip vermilion Mitral regurgitation Amblyopia Hypertrichosis High myopia Desquamation of skin soon after birth Retinal dystrophy Chronic kidney disease Bicuspid aortic valve Widely spaced teeth Cutis laxa Abnormality of the fingernails Abnormality of dental enamel Hypocalcemia Abnormality of the metaphysis Fine hair Hypotelorism Limb undergrowth Microdontia Ectodermal dysplasia Nephropathy Craniosynostosis Radial deviation of finger Abnormality of the microglia Sudden episodic apnea Decreased beta-glucocerebrosidase protein and activity Abnormal pupillary function Abnormality of the small intestine Low voltage EEG Hydropic placenta Enlarged fetal cisterna magna Joint laxity Mild fetal ventriculomegaly Congestive heart failure Osteoporosis Respiratory failure Photophobia Telecanthus Redundant skin Prominent occiput Narrow forehead Tubulointerstitial abnormality Convex nasal ridge Limitation of joint mobility Vesicoureteral reflux Nevus Long face Oral cleft Talipes Platyspondyly Cerebral cortical atrophy Dilatation Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Short nail High hypermetropia Elevated serum creatinine Short humerus Fibular hypoplasia Scaphocephaly Taurodontia Tubulointerstitial nephritis Anodontia Abnormal toenail morphology Interstitial pneumonitis Slow-growing hair Sagittal craniosynostosis Abnormal diaphysis morphology Abnormality of the abdominal wall Flattened epiphysis Thin nail Two carpal ossification centers present at birth


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