Frontal bossing, and Bruising susceptibility

Diseases related with Frontal bossing and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Frontal bossing and Bruising susceptibility that can help you solving undiagnosed cases.


Top matches:

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

High match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

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Other less relevant matches:

High match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

High match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

High match MARSHALL-SMITH SYNDROME


Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

High match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Bruising susceptibility

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Frontal bossing and Bruising susceptibility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Ptosis

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Hernia

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Thrombocytopenia Proptosis Low-set ears Hydrocephalus Abnormal cardiac septum morphology High forehead Respiratory distress Anteverted nares Epicanthus Cryptorchidism Pectus excavatum Generalized hypotonia Abnormal facial shape Long philtrum Seizures Osteopenia Macrocephaly Leukemia Short neck Abnormality of the skeletal system Inguinal hernia Clinodactyly of the 5th finger Fatigue Craniosynostosis Malar flattening Hypospadias Webbed neck Cerebral atrophy Pectus carinatum Strabismus Talipes equinovarus Low-set, posteriorly rotated ears Dolichocephaly Microcephaly Cataract Blue sclerae Abnormal heart morphology Prominent forehead Pes planus Hearing impairment Feeding difficulties Optic atrophy Ventriculomegaly Retrognathia Anemia Congestive heart failure Neoplasm Postnatal growth retardation Astigmatism Posteriorly rotated ears Abnormality of the kidney Short nose Horseshoe kidney Aortic valve stenosis Short thumb Coarctation of aorta Clinodactyly Facial asymmetry Umbilical hernia Broad forehead Growth hormone deficiency Feeding difficulties in infancy Ventricular septal defect Hypertension Aplasia/Hypoplasia of the eyebrow Spina bifida Neurological speech impairment Cleft palate Cafe-au-lait spot Talipes Edema Camptodactyly Midface retrusion Mitral regurgitation Telecanthus Mitral valve prolapse Motor delay Intrauterine growth retardation Kyphosis Joint hypermobility

Rare Symptoms - Less than 30% cases


Premature birth Dental crowding B-cell lymphoma Short attention span Joint laxity Intestinal malrotation Kyphoscoliosis Eczema Neurodevelopmental delay Bicuspid aortic valve Cubitus valgus Abnormality of the testis Partial duplication of thumb phalanx Myopia Atrioventricular canal defect Abnormality of the eye Hypoplasia of the ulna Hypertrophic cardiomyopathy Hypothyroidism Hypoplastic left heart Abnormality of the dentition Absent thumb Behavioral abnormality Bilateral ptosis Hypogonadism Absent radius Microphthalmia Muscle weakness Constipation Hepatomegaly Ataxia Hydronephrosis Pleural effusion Abnormality of the sternum Failure to thrive in infancy Choanal atresia Macrotia Gastroesophageal reflux Polyhydramnios Splenomegaly Cardiomyopathy Heart murmur Delayed speech and language development Open mouth Sparse hair Pachygyria Decreased body weight Abnormal eyelash morphology Sleep apnea Reduced bone mineral density Overfolded helix Poor appetite Agenesis of corpus callosum Myopathy Poor suck Lymphoma Irritability Deep philtrum Lymphedema Abnormal palate morphology Hyperpigmentation of the skin Fine hair Low posterior hairline Abnormal bleeding Scarring Ectropion Thick vermilion border Falls Abnormality of the foot Pulmonic stenosis Hypermetropia Arachnodactyly Triphalangeal thumb Nystagmus Abnormality of vision Aplasia/Hypoplasia of the earlobes Short toe Brachydactyly Syndactyly Vomiting Severe short stature Skeletal dysplasia Pancytopenia Abnormal aortic valve morphology Multiple cafe-au-lait spots Increased susceptibility to fractures Hydroureter Hypochromic microcytic anemia Bone marrow hypocellularity Shallow orbits Hydrops fetalis Intellectual disability, moderate Bowing of the long bones Protruding tongue Small for gestational age Abnormal form of the vertebral bodies Underdeveloped supraorbital ridges Azoospermia Joint hyperflexibility Microdontia Recurrent fractures Abnormality of the genital system Wide nasal bridge Facial hypotonia Flexion contracture Hepatosplenomegaly Finger syndactyly Finger clinodactyly Joint dislocation Delayed gross motor development Multiple suture craniosynostosis Hip dislocation Abnormal vertebral morphology Toe syndactyly Anal atresia Epistaxis Hyperextensible skin Abnormality of the cardiovascular system Asthma Abnormality of skin pigmentation Abnormality of the ulna Abnormality of the thumb Missing ribs Bipolar affective disorder Wheezing Meckel diverticulum Duplicated collecting system Acute monocytic leukemia Duodenal stenosis Primary hypothyroidism Double outlet right ventricle Transposition of the great arteries Natal tooth Slender finger Abnormality of nervous system morphology Mitral stenosis Partial agenesis of the corpus callosum Flat occiput Bicornuate uterus Abnormality of femur morphology Chronic constipation Eyelid coloboma Abnormal renal morphology Abnormal localization of kidney Abnormality of the hypothalamus-pituitary axis Abnormality of chromosome stability Retinal dysplasia Hammertoe Reticulocytopenia Chorioretinal coloboma Abnormal aortic morphology Duodenal atresia Ectopic anus Diastasis recti Abnormality of the preputium Leukodystrophy Trigonocephaly Thin upper lip vermilion Iris coloboma Tachycardia Smooth philtrum Narrow chest Skin rash Attention deficit hyperactivity disorder Deficient excision of UV-induced pyrimidine dimers in DNA Coloboma Neoplasm of head and neck Hypoglycemia Osteoporosis Microcornea Aplasia/Hypoplasia of the uvula Nuclear cataract Recurrent respiratory infections Aplasia/Hypoplasia of fingers Recurrent infections Immunodeficiency Intellectual disability, mild Pyridoxine-responsive sideroblastic anemia Spasticity Sensorineural hearing impairment Single transverse palmar crease Postural instability Hand polydactyly Decreased fertility in males Low-grade fever Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Holoprosencephaly Multicystic kidney dysplasia Clubbing of toes Sinusitis Anemic pallor Amblyopia Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Dehydration Otitis media Absent testis Decreased antibody level in blood Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Broad hallux phalanx Orbital craniosynostosis Labial hypoplasia Hypoplasia of the zygomatic bone Anal stenosis Atopic dermatitis Alopecia of scalp Arnold-Chiari type I malformation Enlarged kidney Absent eyelashes Premature skin wrinkling Generalized hyperpigmentation Abnormality of the gastrointestinal tract Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Delayed CNS myelination Submucous cleft hard palate Curly hair Abnormality of refraction Obsessive-compulsive behavior Redundant skin Brittle hair Sparse eyebrow Scaling skin Melanocytic nevus Chronic otitis media Absent eyebrow Biparietal narrowing Large for gestational age Open bite Malnutrition Neurofibromas Infantile spasms Long palpebral fissure Abnormal heart valve morphology Abnormal myocardium morphology Deep palmar crease Palmoplantar hyperkeratosis Abnormal location of ears Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Puberty and gonadal disorders Optic nerve dysplasia Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Hypoplasia of the frontal lobes Patchy alopecia Gastrointestinal dysmotility Abnormality of hair texture Abnormal mitral valve morphology Slow-growing hair Thickened helices Subvalvular aortic stenosis Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Cavernous hemangioma Abnormal tricuspid valve morphology Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Endocarditis Frontal balding Anterior creases of earlobe Abnormality of the optic disc Relative macrocephaly Optic nerve hypoplasia Abnormal thrombocyte morphology Encephalopathy Dysarthria Dysphagia Intellectual disability, severe Blindness Hypertonia Abnormality of the uterus Delayed skeletal maturation Megakaryocyte dysplasia Alopecia Hyperhidrosis Cerebral cortical atrophy Hyperkeratosis Autism Coarse facial features EEG abnormality Abnormality of the curvature of the vertebral column Congenital thrombocytopenia Respiratory tract infection Central hypothyroidism Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Urethral stenosis U-Shaped upper lip vermilion Clitoral hypoplasia Bilateral camptodactyly Macular hypoplasia Giant platelets Toe clinodactyly Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Aggressive behavior Erythema Abnormality of the genitourinary system Cerebral visual impairment Narrow forehead Cardiomegaly Myocardial infarction Hemiparesis Inflammatory abnormality of the skin Thickened skin Aspiration Dental malocclusion Abnormality of the nail Narrow palate Sparse eyelashes Oculomotor apraxia Cutis laxa Aplasia/Hypoplasia of the corpus callosum Hemangioma Progressive visual loss Vesicoureteral reflux Pruritus Long face Nail dystrophy Abnormality of the cerebral white matter Hypotrichosis Genu valgum Dry skin Ichthyosis Peripheral axonal neuropathy Bulbous nose Nevus Retinal dystrophy Hepatic steatosis High, narrow palate Sleep disturbance Palmoplantar keratoderma Abdominal distention Full cheeks Depressivity Headache Aplastic anemia Patellar subluxation Ectopia lentis Arnold-Chiari malformation Microretrognathia Joint contracture of the hand Exotropia Osteoarthritis Postaxial hand polydactyly Bifid uvula Thin vermilion border Generalized muscle weakness Dilatation Quadricuspid aortic valve Lactose intolerance Myopathic facies Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Aortic aneurysm Hallux valgus Secundum atrial septal defect Arterial tortuosity Pneumonia Hypoplasia of the corpus callosum Protruding ear Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Thoracic aortic aneurysm Disproportionate tall stature Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis High anterior hairline Narrow nose Soft skin Scaphocephaly Dilatation of the cerebral artery Rhinitis Aortic root aneurysm Atrophic scars Allergy Down-sloping shoulders Myalgia Abnormality of the metaphysis Asymmetry of the thorax Brain neoplasm Osteosarcoma Myelomeningocele Microcytic anemia Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Delayed eruption of teeth Macroglossia Congenital cataract Abnormality of the ribs Microtia Wormian bones Flat forehead Micropenis Abnormality of dental enamel Obesity Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Hypochromic anemia Reduced alpha/beta synthesis ratio Truncus arteriosus Eosinophilia Heart block Short clavicles Thoracic scoliosis Oligodactyly Short humerus Limited elbow extension Petechiae Right bundle branch block Bundle branch block Menorrhagia Bowing of the legs Atrioventricular block Hypoplasia of the radius Aortic regurgitation Hemoglobin H Bradycardia Adducted thumb Atrial fibrillation Gastrointestinal hemorrhage Nausea Patent foramen ovale Polydactyly Bilateral talipes equinovarus Fragile skin Hypoplasia of the musculature Diarrhea Neurocytoma Triangular nasal tip Cerebellar hypoplasia Conductive hearing impairment Abnormality of the upper limb Abnormality of the subarachnoid space Hypopigmentation of the skin Neutropenia Vertigo Abnormality of the liver Carcinoma Weight loss Diabetes mellitus Upslanted palpebral fissure Crumpled long bones Renal insufficiency Fever Hyperreflexia Visual impairment Reduced factor X activity Tetralogy of Fallot Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Abnormality of the spleen Renal agenesis Sloping forehead Abnormal eyebrow morphology Tracheoesophageal fistula Arteriovenous malformation Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Ectopic kidney Squamous cell carcinoma Glucose intolerance Myelodysplasia Oligohydramnios Hyperinsulinemia Abnormality of the urinary system Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Hypergonadotropic hypogonadism Insulin resistance Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Short palpebral fissure Hydrocele testis Decreased muscle mass Apnea Increased body weight Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Glossoptosis Megalocornea Hypoplasia of the odontoid process Spinal canal stenosis Slender long bone Incoordination Laryngomalacia Accelerated skeletal maturation Generalized hirsutism Gingival overgrowth Short sternum Tall stature Omphalocele Thin skin Pulmonary arterial hypertension Overgrowth Aciduria Arthralgia Hirsutism Short distal phalanx of finger Thick eyebrow Polymicrogyria Synophrys Short philtrum Abnormality of the larynx Eclabion Proximal placement of thumb Brachycephaly Abnormality of the thorax Cholelithiasis Torticollis Vasculitis Bilateral single transverse palmar creases Pain Cyanosis Hip dysplasia Wide intermamillary distance Esotropia Triangular face Ascites Highly arched eyebrow Gait disturbance Dicarboxylic aciduria Cognitive impairment Narrow mouth Distal widening of metacarpals Large sternal ossification centers Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Atlantoaxial dislocation Recurrent aspiration pneumonia Oral aversion



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