Hepatomegaly, and Open mouth

Diseases related with Hepatomegaly and Open mouth

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


Top matches:

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 FETAL GAUCHER DISEASE


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

High match CARDIOFACIOCUTANEOUS 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

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Other less relevant matches:

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Medium match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Medium match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Medium match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Open mouth

Symptoms // Phenotype % cases
Anteverted nares Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Open mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Cerebral atrophy Microcephaly Downturned corners of mouth Downslanted palpebral fissures Polyhydramnios High palate Hearing impairment Edema Strabismus Ptosis Ventricular septal defect Short neck Cardiomegaly Hernia Atrial septal defect Epicanthus Hepatic failure Abdominal distention Short stature Coarse facial features Abnormality of cardiovascular system morphology Thickened skin Clinodactyly of the 5th finger Scoliosis Intrauterine growth retardation Cleft palate Cataract Growth delay Posteriorly rotated ears Failure to thrive Hepatosplenomegaly Hydronephrosis Dolichocephaly Hyperkeratosis Premature birth Intestinal malrotation Neonatal hypotonia Ventriculomegaly Macrotia Narrow forehead Elevated hepatic transaminase Abnormal cardiac septum morphology Underdeveloped nasal alae Abnormality of the nail Hyperreflexia Abnormality of the liver Thrombocytopenia Anal stenosis Hypertonia Spasticity Anemia Proptosis Ichthyosis Cryptorchidism Narrow mouth Thick upper lip vermilion Vesicoureteral reflux Full cheeks Patent ductus arteriosus Hypoplasia of penis Overgrowth Abnormality of the dentition Thin vermilion border High, narrow palate Wide nasal bridge Kyphosis Neoplasm Short distal phalanx of finger Abnormality of the pinna Myopia Large for gestational age Prominent occiput Muscular hypotonia of the trunk Pleural effusion Retrognathia Nystagmus Inguinal hernia Hypospadias Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases


Optic atrophy Retinal dystrophy Bulbous nose Long face Frontal bossing Vomiting Hydrocephalus Telecanthus Encephalopathy Constipation Alopecia Cerebral cortical atrophy Malar flattening Osteopenia Umbilical hernia Microdontia Abnormality of the eye Cardiomyopathy Widely spaced teeth Pectus carinatum Micropenis Hypotrichosis Dry skin Abnormality of skin pigmentation Abnormal heart morphology Intellectual disability, severe Delayed skeletal maturation Gliosis Nevus Cerebellar atrophy Elevated alkaline phosphatase Abnormal hair pattern Arnold-Chiari malformation Hyperbilirubinemia Gingival overgrowth Cholestasis Osteoporosis Myoclonus Hypertension Hypoplasia of the corpus callosum Sinusitis Hypoplasia of the zygomatic bone Absent speech Cleft lip Wide mouth Synophrys Anal atresia Delayed myelination Overfolded helix Syndactyly Immunodeficiency Headache Skeletal dysplasia Portal hypertension Generalized hyperpigmentation Webbed neck Palmoplantar hyperkeratosis Growth hormone deficiency Inflammatory abnormality of the skin Cafe-au-lait spot Lymphedema Cerebral visual impairment Short toe Single transverse palmar crease Hemangioma Postnatal growth retardation Abnormality of the genitourinary system Pneumonia Biparietal narrowing Deep philtrum Fatigue Brachydactyly Scaling skin Melanocytic nevus Open bite Hydroureter Neurofibromas Infantile spasms Long palpebral fissure Multiple cafe-au-lait spots Redundant skin Gastroesophageal reflux Generalized hirsutism Flat face High forehead Abnormality of eye movement Abnormality of the kidney Ectropion Flexion contracture Poor suck Growth abnormality Tented upper lip vermilion Dysphagia Talipes equinovarus Ascites Cardiorespiratory arrest Round face Specific learning disability Abnormality of the cardiovascular system Congenital diaphragmatic hernia Low-set, posteriorly rotated ears Apnea Cerebral calcification Abnormal bleeding Developmental regression Tall stature Prominent forehead Wide nose Agenesis of corpus callosum Enlarged kidney Thickened helices Respiratory distress Generalized hyperkeratosis Thymus hyperplasia Capillary hemangioma Pulmonary hypoplasia Hamartoma Neurodevelopmental delay Retinal nonattachment Acanthocytosis Neoplasm of the thymus Generalized osteoporosis Ambiguous genitalia, male Abnormal subcutaneous fat tissue distribution Multicystic kidney dysplasia Butterfly vertebrae Postnatal microcephaly Increased mean platelet volume Large fontanelles Intrahepatic cholestasis Central hypotonia Bronchogenic cyst Retinal hamartoma Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Central heterochromia Myelomeningocele Sloping forehead Epileptic spasms Postaxial hand polydactyly Microcornea High anterior hairline Postaxial polydactyly Talipes Toe syndactyly Pierre-Robin sequence Conductive hearing impairment Polydactyly Bilateral talipes equinovarus Pathologic fracture Connective tissue nevi Prominent metopic ridge Absent septum pellucidum Postaxial foot polydactyly Meningocele Developmental stagnation Breech presentation Mandibular hyperostosis Opacification of the corneal stroma Depigmentation/hyperpigmentation of skin Horseshoe kidney Hypertrophy of skin of soles Venous malformation Metatarsus valgus Pulmonary embolism Olfactory lobe agenesis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Spinal canal stenosis Ovarian neoplasm Varicose veins Multiple lipomas Pericardial effusion Disproportionate tall stature Birth length greater than 97th percentile Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Chorioretinal coloboma Lipodystrophy Cachexia Reduced number of teeth Goiter Deep venous thrombosis Arteriovenous malformation Epidermal nevus Micronodular cirrhosis Lymphangioma Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Small nail Seborrheic dermatitis Hemoglobinuria Duplicated collecting system Neoplasm of the central nervous system Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Lower limb asymmetry Asymmetric growth Triangular mouth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Alveolar ridge overgrowth Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Neural tube defect Aplasia cutis congenita of scalp Anisopoikilocytosis Skin ulcer Arthralgia Delayed puberty Joint hyperflexibility Thick eyebrow Severe muscular hypotonia Pointed chin Iris coloboma Recurrent fractures Bowing of the long bones Bone pain Hypocalcemia Aortic valve stenosis Situs inversus totalis Abnormality of the metacarpal bones Low anterior hairline Recurrent respiratory infections Wormian bones Abnormality of the fingernails Sparse scalp hair Osteolysis Convex nasal ridge Coarse hair Abnormality of the voice Generalized muscle weakness Hypoplasia of the maxilla Delayed eruption of teeth Malabsorption Dilated cardiomyopathy Small for gestational age Joint laxity Oligodontia Peripheral neuropathy Syringomyelia Frontal upsweep of hair Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Skin dimples Agenesis of permanent teeth Uterus didelphys Clitoral hypertrophy Abnormality of the nares Colonic diverticula Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Increased VLDL cholesterol concentration Absent lacrimal punctum Septate vagina Anasarca Malrotation of small bowel Abnormality of the female genitalia Urethrovaginal fistula Hypoplasia of the primary teeth Midline skin dimples over anterior/posterior fontanelles Hypothyroidism Diabetes mellitus Hypsarrhythmia Hemolytic anemia Short metacarpal Hypoplastic 5th lumbar vertebrae Tachycardia Lymphadenopathy Partial absence of toe Obesity Cerebellar hypoplasia Thin upper lip vermilion Hypogonadism Respiratory failure Stroke Clinodactyly Intellectual disability, mild Cirrhosis Generalized myoclonic seizures Recurrent otitis media Abnormality of the thoracic spine Lumbosacral meningocele Sepsis Epileptic encephalopathy Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Abnormal vagina morphology Abnormality of cholesterol metabolism Neuronal loss in central nervous system Abnormal platelet morphology Limb undergrowth Cerebellar cortical atrophy Generalized-onset seizure Eczema Absent frontal sinuses Severe short stature Narrow nose Dilatation Multiple renal cysts Cognitive impairment Sensorineural hearing impairment Biconvex vertebral bodies Patellar dislocation Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Abnormality of the skull Humoral immunodeficiency Periodontitis Short digit Pulmonary edema Irregular vertebral endplates Rough bone trabeculation Decreased skull ossification Hip contracture Mitral stenosis Biconcave vertebral bodies Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Recurrent pneumonia Platybasia Meningitis Abnormality of the mandible Schistocytosis Cavernous hemangioma Venous thrombosis Desquamation of skin soon after birth Blindness Dysarthria Delayed speech and language development Feeding difficulties Ataxia Mild fetal ventriculomegaly Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Myocardial necrosis Behavioral abnormality Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Distal arthrogryposis Congestive heart failure Depressivity Hypokinesia Abnormality of the cerebral white matter Progressive visual loss Dental malocclusion Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Thick vermilion border Bruising susceptibility Falls Joint hypermobility Peripheral axonal neuropathy Astigmatism Genu valgum Pulmonic stenosis Hypermetropia Nail dystrophy Pectus excavatum Pruritus Neurological speech impairment Leukemia Scarring Sparse hair Erythema Respiratory tract infection Irritability Feeding difficulties in infancy Hypertrophic cardiomyopathy Aggressive behavior EEG abnormality Autism Hyperhidrosis Congenital ichthyosiform erythroderma Petechiae Low posterior hairline Renal neoplasm Abnormality of pancreas morphology Nephroblastomatosis Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Hypoxemia Volvulus Polysplenia Hypoplasia of the abdominal wall musculature Global brain atrophy Nephroblastoma Hyperinsulinemia Polycystic kidney dysplasia Bilateral single transverse palmar creases Hepatic fibrosis Renal dysplasia Status epilepticus Lumbar hyperlordosis Macroglossia Smooth philtrum Hyperlordosis Deeply set eye Renal insufficiency Naevus flammeus of the eyelid Renal hamartoma Opisthotonus Interphalangeal joint contracture of finger Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Congenital contracture Intracranial hemorrhage Purpura Knee flexion contracture Hydrops fetalis Abnormality of the face Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Nephrogenic rest Decreased fetal movement Oligohydramnios Triangular face Metabolic acidosis Everted lower lip vermilion Arthrogryposis multiplex congenita Microtia Camptodactyly Jaundice Respiratory insufficiency Skeletal muscle atrophy Prominent xiphoid process Distal ileal atresia Ileal atresia Coarctation of aorta Fine hair Abnormality of dental enamel Multiple plantar creases Cupped ear Focal impaired awareness seizure Patent foramen ovale Abnormality of the urinary system Amblyopia Choreoathetosis Focal-onset seizure Brain atrophy Short foot Prominent nasal bridge Brachycephaly Hyporeflexia Tremor Oral aversion Eyelid fasciculation Limb hypertonia Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Cystic hygroma Hydrocele testis Patchy alopecia Carious teeth Lymphopenia Abnormal vertebral morphology Abnormality of retinal pigmentation Subcutaneous nodule Heterotopia Abnormal form of the vertebral bodies Epidermal acanthosis High myopia Decreased antibody level in blood Sudden cardiac death Renal cyst Polymicrogyria Confusion Facial asymmetry Hip dislocation Vertical nystagmus Finger syndactyly Craniosynostosis Joint stiffness Intellectual disability, moderate Carcinoma Kyphoscoliosis Glaucoma Abdominal pain Visual loss Recurrent infections Fever Pain Large fleshy ears Hoarse cry Optic nerve dysplasia Abnormal tricuspid valve morphology Myocardial infarction Hyperextensible skin Curly hair Abnormal heart valve morphology Abnormality of the sternum Aplasia/Hypoplasia of the eyebrow Malnutrition Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Relative macrocephaly Underdeveloped supraorbital ridges Abnormality of vision Optic nerve hypoplasia Delayed gross motor development Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Hyperpigmentation of the skin Decreased body weight Hemiparesis Submucous cleft hard palate Poor appetite Abnormality of the optic disc Gastrointestinal dysmotility Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Slow-growing hair Abnormal mitral valve morphology Deep palmar crease Atopic dermatitis Abnormality of the gastrointestinal tract Alopecia of scalp Abnormal eyelash morphology Arnold-Chiari type I malformation Absent eyelashes Premature skin wrinkling Abnormality of the ulna Short attention span Abnormality of refraction Woolly hair Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Abnormality of the pons



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