Depressed nasal bridge, and Abdominal pain

Diseases related with Depressed nasal bridge and Abdominal pain

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Abdominal pain that can help you solving undiagnosed cases.


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High match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

High match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

High match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

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High match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

High match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High 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

High match COFFIN-SIRIS SYNDROME 1; CSS1


Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

High match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Abdominal pain

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Abdominal pain. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Pain

Uncommon Symptoms - Between 30% and 50% cases


Constipation

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Vomiting

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Proptosis

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Microcephaly Clinodactyly Skeletal dysplasia Inguinal hernia Strabismus Brachydactyly Hernia Kyphoscoliosis Micrognathia Kyphosis Wide mouth Headache Wide nose Splenomegaly Abnormal vertebral morphology Downslanted palpebral fissures Coxa valga Recurrent respiratory infections Macroglossia Sensorineural hearing impairment Thick vermilion border Posteriorly rotated ears Ventricular septal defect Generalized hirsutism Generalized hypotonia Delayed speech and language development Flexion contracture Cataract Midface retrusion Postnatal growth retardation Abnormal form of the vertebral bodies Thickened skin Frontal bossing Ptosis Nystagmus Cleft palate Short nose Malar flattening Recurrent infections Hypospadias Neoplasm Abnormality of the skeletal system Dilatation Pneumonia Cognitive impairment Myopia Carious teeth Dolichocephaly Cardiomyopathy Craniosynostosis Gastroesophageal reflux Joint stiffness Congestive heart failure Glaucoma Wide nasal bridge Delayed skeletal maturation Abdominal distention Lumbar hyperlordosis Severe short stature Hydronephrosis Abnormality of dental enamel Disproportionate short-limb short stature High palate Hearing impairment Polyhydramnios Osteopenia Coarse facial features Respiratory tract infection Synophrys Hepatosplenomegaly Hip dysplasia Limb undergrowth Hirsutism Aspiration Elbow flexion contracture Radial deviation of finger Elevated alkaline phosphatase Dental malocclusion Confusion Micropenis Long eyelashes Spinal canal stenosis

Rare Symptoms - Less than 30% cases


Hernia of the abdominal wall Abnormality of glycosaminoglycan metabolism Heparan sulfate excretion in urine Low-set, posteriorly rotated ears J-shaped sella turcica Hip subluxation Hypotrichosis Facial asymmetry High, narrow palate Abnormality of the gingiva Patent ductus arteriosus Abnormal nerve conduction velocity Abnormal diaphysis morphology Left ventricular hypertrophy Lymphedema Myelopathy Sagittal craniosynostosis Arnold-Chiari malformation Flared iliac wings Abnormal heart morphology Hydrocephalus Abnormality of cardiovascular system morphology Atrial septal defect Pulmonic stenosis Communicating hydrocephalus Abnormal cardiac septum morphology Thin upper lip vermilion Fever Urinary glycosaminoglycan excretion Dermatan sulfate excretion in urine Retrognathia Gingival overgrowth Long philtrum Abnormality of lysosomal metabolism Edema Increased size of nasopharyngeal adenoids Pectus excavatum Abnormality of mucopolysaccharide metabolism Intellectual disability, mild Hypogonadism Abnormality of the tonsils Cor pulmonale Widely spaced teeth Tracheal stenosis Abnormality of the metacarpal bones Genu valgum Corneal opacity Pectus carinatum Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Conductive hearing impairment Abnormality of retinal pigmentation Pes cavus Abnormality of the dentition Diarrhea Hemangioma Respiratory insufficiency Sleep disturbance Hepatomegaly Papilledema Spinal cord compression Hypertrichosis Broad nasal tip Calvarial hyperostosis Delayed eruption of teeth Thick eyebrow Astigmatism Severe global developmental delay Behavioral abnormality Muscular hypotonia Retinal degeneration Abnormality of skin pigmentation Neurofibromas Lymphangioma Dysostosis multiplex Diastasis recti Obstructive sleep apnea Peripheral visual field loss Protuberant abdomen Rhinitis Arthropathy Shield chest Abnormal heart valve morphology Restrictive ventilatory defect Asymmetry of the thorax Multiple joint contractures Toe walking Asthma Heart murmur Back pain Increased intracranial pressure Triangular mouth Opacification of the corneal stroma Recurrent otitis media Abnormality of the ribs Cardiomegaly Visual loss Microdontia Hyperkeratosis Progressive visual loss Limitation of joint mobility Intrauterine growth retardation Visual impairment Recurrent urinary tract infections Spasticity Thick lower lip vermilion Ambiguous genitalia Diabetes insipidus Depressivity Respiratory distress Talipes equinovarus Gait disturbance Anterior pituitary hypoplasia Everted lower lip vermilion Ectopic posterior pituitary Hemivertebrae Failure to thrive Growth hormone deficiency Flat face Long palpebral fissure Intellectual disability, moderate Large earlobe Hypotelorism Encephalocele Epicanthus Macrotia Anemia Autistic behavior Deeply set eye Knee flexion contracture Drooling Poor speech Bulbous nose Inability to walk Otitis media Sinusitis Protruding tongue Lumbosacral hirsutism Severe expressive language delay Coarse hair Congenital hip dislocation Flared nostrils Mandibular condyle hypoplasia Narrow pelvis bone Flaring of rib cage Facial hypertrichosis Premature thelarche Prominent interphalangeal joints Easy fatigability Broad ischia Abnormality of joint mobility Delayed tarsal ossification Thick skull base Short ribs Short distal phalanx of the 5th toe Short distal phalanx of the 5th finger Hypoplastic fifth fingernail Motor delay Lower limb spasticity Aortic valve stenosis Prominent sternum Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Abnormal hand morphology Atlantoaxial dislocation Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Abnormal CNS myelination Lumbar kyphosis Abnormality of the pubic bone Cervical subluxation Hypoplasia of the femoral head Lower limb muscle weakness Calcification of falx cerebri Anterior rib cupping Hypermetropia Platyspondyly C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Arthralgia Large sella turcica Limb muscle weakness Chronic diarrhea Intussusception Single transverse palmar crease Sparse scalp hair Proximal tapering of metacarpals Small nail Cerebellar vermis hypoplasia Renal hypoplasia Decreased fetal movement Congenital diaphragmatic hernia Eczema Tetralogy of Fallot Dandy-Walker malformation Intestinal malrotation Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Tall stature Short distal phalanx of finger Abnormality of the tympanic membrane Stiff interphalangeal joints Short philtrum Abnormality of the pinna Feeding difficulties in infancy Joint laxity Aggressive behavior Hypoglycemia Abnormal mandible coronoid process morphology Agenesis of corpus callosum Abnormality of premolar morphology Abnormal mandibular ramus morphology Choanal atresia Preauricular skin tag Duodenal ulcer Tics Hepatoblastoma Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Deformed humerus Aplasia/Hypoplasia of the patella Patellar hypoplasia Rectal prolapse Aplasia of the uterus Short sternum Enlarged vertebral pedicles Neoplasm of the liver Recurrent hypoglycemia Enlarged cisterna magna Low anterior hairline Short 5th finger Dislocated radial head Abnormality of digit Partial agenesis of the corpus callosum Ectopic kidney Anonychia Cutis marmorata Precocious puberty Sacral dimple Spina bifida occulta Accelerated skeletal maturation Horseshoe kidney Increased body weight Abnormality of the head Sclerosis of skull base Chronic otitis media Posterior scalloping of vertebral bodies Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Hyperammonemia Widely patent coronal suture Recurrent upper respiratory tract infections Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Short tubular bones of the hand Sleep apnea Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Limited shoulder movement Prominent supraorbital ridges Abnormality of the acetabulum Hemiplegia Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Language impairment Stridor Abnormality of the humeral epiphysis Hypertension Flared metaphysis Retinopathy Mitral regurgitation Split hand Progressive neurologic deterioration Myocardial infarction Interphalangeal joint contracture of finger Intellectual disability, profound Abnormality of the cardiovascular system Abnormality of the skin Full cheeks Neurodegeneration Dry skin Abnormality of eye movement Stroke Pallor Skeletal muscle atrophy Abnormality of epiphysis morphology Mental deterioration Exotropia Apnea Spastic paraparesis Coxa vara Aortic regurgitation Cerebral palsy Progressive hearing impairment Corneal dystrophy Elevated hepatic transaminase Dyspnea Prominent forehead Arrhythmia Metatarsus adductus Coronary artery atherosclerosis Abnormality of dental morphology Hypoplastic iliac wing Constrictive median neuropathy Abnormal aortic valve morphology Hypoplasia of teeth Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Abnormality of peripheral nerve conduction Hydrocele testis Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Abnormality of the ulna Diaphyseal thickening Nasal obstruction Chronic sinusitis Recurrent ear infections Blepharitis Retinal fold Chronic rhinitis Hyperactive deep tendon reflexes Biconcave vertebral bodies Mucopolysacchariduria Large face Exertional dyspnea Decreased body weight Difficulty standing Anterior open bite Meckel diverticulum Endocardial fibroelastosis Seborrheic dermatitis Thickened calvaria Beaking of vertebral bodies Thoracic scoliosis Short clavicles Hypoplasia of the odontoid process Palpebral edema Delayed menarche Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Abnormality of the skull Abnormality of the clavicle Mitral valve calcification Gingivitis Abnormality of the respiratory system Upper airway obstruction Abnormal mitral valve morphology Hypoplastic ilia Angina pectoris Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Conical tooth Wide cranial sutures Platybasia Carpal bone hypoplasia Foam cells Pulmonary edema Abnormal cornea morphology Exercise-induced muscle stiffness Pulmonary embolism Hypoplasia of the corpus callosum Ileus Facial hypotonia Chronic constipation Volvulus Decreased serum testosterone level Hypochromic microcytic anemia Perimembranous ventricular septal defect Abnormal hemoglobin Shawl scrotum U-Shaped upper lip vermilion Absent frontal sinuses Widely-spaced maxillary central incisors Reduced alpha/beta synthesis ratio Endometriosis Hemoglobin H Hypoganglionosis Male pseudohermaphroditism Microcytic anemia Cleft lip Tapered finger Cerebral atrophy Abnormality of metabolism/homeostasis Holoprosencephaly Depressed nasal ridge Telecanthus Irritability Microtia Postaxial polydactyly Hydroureter Renal agenesis Abnormality of the genital system Aganglionic megacolon Oral cleft Infantile muscular hypotonia Tented upper lip vermilion Spastic diplegia Cleft upper lip Short palm Intellectual disability, severe Forearm undergrowth Normocytic anemia Delayed eruption of permanent teeth Clitoral hypoplasia Renal duplication Mesomelic short stature Broad toe Aplasia/Hypoplasia involving the metacarpal bones Vaginal atresia Thoracic hemivertebrae Hypoplastic sacrum Absent uvula Duplication of the distal phalanx of hand Bifid distal phalanx of toe Right ventricular outlet obstruction Right atrial isomerism Short middle phalanx of the 5th finger Rib fusion Small hand Mesomelia Hypodontia Nail dysplasia Broad thumb Dental crowding Wide anterior fontanel Polydactyly Delayed cranial suture closure External genital hypoplasia Bifid tongue Vertebral fusion Increased number of teeth Nevus flammeus Double outlet right ventricle Thoracolumbar scoliosis Missing ribs Hypoplastic labia majora Hypertonia Bilateral cryptorchidism Thrombocytopenia Autism Adrenocorticotropic hormone deficiency Panhypopituitarism Poor appetite Brachycephaly Respiratory failure Weight loss Hypopituitarism Hyperreflexia Mandibular prognathia High pitched voice Anxiety Hyperlordosis Generalized tonic-clonic seizures Narrow chest Talipes Microphallus Bilateral postaxial polydactyly Generalized myoclonic seizures Cerebral visual impairment Elevated serum creatine phosphokinase Hyperactivity Muscular hypotonia of the trunk Developmental regression Congenital cataract Narrow forehead Abnormal lung morphology 2-3 toe syndactyly EEG with multifocal slow activity Hip contracture Chronic lung disease Thickened helices Enterocolitis Prominent nasal tip Shortening of all distal phalanges of the fingers Echogenic fetal bowel Nausea Premature birth Dysphagia Fibular aplasia Radial bowing Short femur 11 pairs of ribs Fused cervical vertebrae Lethal skeletal dysplasia Coronal cleft vertebrae Intestinal pseudo-obstruction Long clavicles Loss of speech Aplasia/Hypoplasia of the ulna Laryngeal stenosis Multiple joint dislocation Thoracic platyspondyly Club-shaped proximal femur Multinucleated giant chondrocytes in epiphyseal cartilage Distal tapering femur Bell-shaped thorax Short humerus Short metacarpal Hyperkinesis Rhizomelia Meningitis Muscle stiffness Recurrent pneumonia Absence seizures Joint dislocation Abnormality of the outer ear Short metatarsal Atonic seizures Elbow dislocation Oral-pharyngeal dysphagia Clubbing Flat occiput Spondyloepiphyseal dysplasia Tibial bowing Progressive spasticity Cervical agenesis Rod-cone dystrophy Mandibular hyperostosis Abnormality of finger Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Lipoma Exostoses Capillary hemangioma Abnormality of the wrist Ovarian neoplasm Macroorchidism Meningioma Deep venous thrombosis Varicose veins Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Generalized hyperpigmentation Hamartoma Anisocytosis Lipodystrophy Abnormality of the nail Venous thrombosis Goiter Palmoplantar hyperkeratosis Reduced number of teeth Growth abnormality Cachexia Chorioretinal coloboma Multiple cafe-au-lait spots Melanocytic nevus Hyperostosis Decreased muscle mass Hallux valgus Disproportionate tall stature Pericardial effusion Multiple lipomas Hemihypertrophy Arterial thrombosis Subcutaneous nodule Retinal hamartoma Macrodactyly Sirenomelia Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Bronchogenic cyst Metatarsus valgus Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Central heterochromia Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Portal vein thrombosis Epidermal nevus Buphthalmos Vascular skin abnormality Myofibrillar myopathy Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Thrombophlebitis Testicular neoplasm Generalized hyperkeratosis Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Lymphopenia Heterotopia Hypertrophic cardiomyopathy Abnormality of color vision Failure to thrive in infancy Patent foramen ovale Myelodysplasia Cubitus valgus Abnormality of the coagulation cascade Leukocytosis Cystic hygroma Poor suck Male infertility Abnormality of the vertebral column Neuroblastoma Abnormality of blood and blood-forming tissues Gonadal dysgenesis Arnold-Chiari type I malformation Malignant hyperthermia Pterygium Bicuspid aortic valve Nonimmune hydrops fetalis Wide intermamillary distance Sparse hair Broad forehead Leukemia Bruising susceptibility Triangular face Abnormal bleeding Webbed neck Amenorrhea Azoospermia Coarctation of aorta Ventricular hypertrophy Low posterior hairline Primary amenorrhea Clumsiness Amblyopia Plagiocephaly Drusen Atrial flutter Open mouth Renal cyst Immunodeficiency Clinodactyly of the 5th finger Carcinoma Finger syndactyly Hip dislocation Long face Polymicrogyria Sudden cardiac death Optic atrophy Gliosis Nevus Round face Decreased antibody level in blood Overgrowth High myopia Epidermal acanthosis Syndactyly Postductal coarctation of the aorta Restrictive cardiomyopathy Reduced factor XII activity Synovitis Schwannoma Multiple lentigines Optic disc hypoplasia Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Superior pectus carinatum Neurofibrosarcoma Preductal coarctation of the aorta Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Delayed ossification of the hand bones



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hyperlordosis, related diseases and genetic alterations Fever and Hypertrophic cardiomyopathy, related diseases and genetic alterations Hydrocephalus and Micropenis, related diseases and genetic alterations

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