Brachydactyly, and Pulmonary arterial hypertension

Diseases related with Brachydactyly and Pulmonary arterial hypertension

In the following list you will find some of the most common rare diseases related to Brachydactyly and Pulmonary arterial hypertension that can help you solving undiagnosed cases.


Top matches:

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Medium match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low 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

Low match YUNIS-VARON 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

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Pulmonic stenosis

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Short distal phalanx of finger

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Depressed nasal bridge Proptosis Atrial septal defect Abnormal cardiac septum morphology Abnormality of the skeletal system Scoliosis Conductive hearing impairment Kyphoscoliosis Motor delay Ventricular septal defect Hypertelorism Abnormal heart morphology Optic atrophy Postnatal growth retardation Recurrent otitis media Abnormal facial shape Pachygyria Pes planus Respiratory distress Anteverted nares Feeding difficulties Low-set ears Micrognathia Kyphosis Hypoplasia of the corpus callosum Umbilical hernia Small nail Cerebellar hypoplasia Sparse hair Patent ductus arteriosus Ascites Growth delay Syndactyly Generalized hypotonia Cataract Hip dislocation Pectus excavatum Intrauterine growth retardation Prominent forehead Strabismus Microcephaly Hepatomegaly Ventriculomegaly Frontal bossing Protruding tongue Bowing of the long bones Generalized hirsutism Hydrocephalus Retrognathia Microphthalmia Midface retrusion Dilatation Respiratory insufficiency Alopecia Tetralogy of Fallot Muscular hypotonia Abnormality of cardiovascular system morphology Esophageal varix Portal hypertension Hypotrichosis Respiratory tract infection Growth hormone deficiency High forehead Pneumonia Macrotia Hernia Muscle weakness Recurrent respiratory infections Talipes equinovarus Short neck

Rare Symptoms - Less than 30% cases


Gastrointestinal hemorrhage Renovascular hypertension Omphalocele Bicuspid aortic valve Abnormality of the metacarpal bones Pulmonary artery stenosis Nystagmus Cryptorchidism Short nose Pain Intellectual disability, mild Vesicoureteral reflux Polymicrogyria Joint hyperflexibility Abnormality of the dentition Premature birth Osteopenia Cirrhosis Hirsutism Cardiomyopathy Irritability Glossoptosis Cardiomegaly Cognitive impairment Short toe Accelerated skeletal maturation Increased body weight Short philtrum Toe syndactyly Short finger Agenesis of corpus callosum Fatigue Hypoplastic facial bones Hypoplastic scapulae Short clavicles Micropenis Abnormality of the kidney Flared metaphysis Chronic obstructive pulmonary disease Gastroesophageal reflux Narrow mouth Hydronephrosis Recurrent aspiration pneumonia Otitis media Asthma Macrocephaly Infertility Edema Behavioral abnormality Dyspnea Tachycardia Sclerocornea Cyanosis Mitral valve prolapse Respiratory failure Thickened skin Progressive hearing impairment Tachypnea Pericardial effusion Abnormality of the optic disc Obstructive lung disease Absent nipple Abnormality of the skull Recurrent bronchitis Oligohydramnios Mandibular prognathia Malar flattening Emphysema Thin upper lip vermilion Craniosynostosis Hypermetropia Synophrys High, narrow palate Intestinal malrotation Cerebellar vermis hypoplasia Short phalanx of finger Sparse scalp hair Recurrent urinary tract infections Left ventricular hypertrophy Wide anterior fontanel Sinusitis Coarse hair Aortic aneurysm Anonychia Short thumb Hepatosplenomegaly Abnormality of the pinna Cleft palate Cutis marmorata telangiectatica congenita Long philtrum Genu valgum Prominent superficial veins Thick eyebrow High palate Delayed eruption of teeth Short thorax Limited elbow extension Tibial bowing Chronic hepatic failure Severe global developmental delay Platyspondyly Thin ribs Hepatic failure Microdontia Short humerus Irregular vertebral endplates Aortic valve stenosis Sparse and thin eyebrow Aplasia cutis congenita of scalp Mitral regurgitation Ventricular hypertrophy Hyperactivity Talipes Coarctation of aorta Tricuspid regurgitation Oligodactyly Sparse eyebrow Aplasia cutis congenita Skeletal dysplasia Delayed skeletal maturation Anisospondyly Intervertebral space narrowing Heart murmur Congestive heart failure Right ventricular hypertrophy Inguinal hernia Broad forehead Microtia Cutis marmorata Encephalopathy Splenomegaly Abnormality of the occipital bone Short proximal phalanx of hallux Blindness Peripheral neuropathy Aplasia/Hypoplasia of the scapulae Visual impairment Delayed speech and language development Sensorineural hearing impairment Abnormal pelvis bone morphology Granular macular appearance Thickened ears Abnormality of dental structure Ataxia Aplasia/Hypoplasia of the proximal phalanx of the hallux Tapered toe Aplasia of the distal phalanx of the hallux Abnormal parietal bone morphology Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Narrow nasal base Rod-cone dystrophy Vomiting Deeply set eye Polydactyly Hyperkeratosis Weight loss Autism Hypothyroidism Jaundice Photophobia Elevated hepatic transaminase High-frequency sensorineural hearing impairment Myalgia Proteinuria Pallor Childhood-onset truncal obesity Autistic behavior Abnormality of the liver Scarring Abdominal pain Increased circulating androgen level Dystonia Hyporeflexia Renal insufficiency Obesity Depressivity Clinodactyly Visual loss Receptive language delay Hyperostosis frontalis interna Constipation Exudative retinopathy Aplasia of the 1st metacarpal Chronic active hepatitis Myoclonus Abnormal adipose tissue morphology Hyperhidrosis Hypogonadism Nonproductive cough Diabetes mellitus Shortening of all distal phalanges of the toes Broad secondary alveolar ridge Dilatation of the bladder Absent eyebrow Localized hirsutism Tented upper lip vermilion Abnormality of pelvic girdle bone morphology Abnormality of the urinary system Pyloric stenosis Clitoral hypertrophy Abnormality of dental morphology Rocker bottom foot Short chin Short middle phalanx of finger Metatarsus adductus Abnormality of renal calyx morphology Aplasia/Hypoplasia of the eyebrow Abnormality of prothrombin EEG with occipital slowing Absent thumb Sparse eyelashes Short ribs Severe hearing impairment Protruding ear Large sternal ossification centers Distal widening of metacarpals Vitreous haze Hypospadias Upslanted palpebral fissure Polyhydramnios Hypertrophic cardiomyopathy Dolichocephaly Hydrops fetalis Thin vermilion border Single transverse palmar crease Tapered finger Hypopigmentation of the skin Hypodontia Dandy-Walker malformation Neuronal loss in central nervous system Large fontanelles Abnormality of digit Abnormality of blood and blood-forming tissues Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the clavicles Hypoplasia of the frontal lobes Abnormal retinal artery morphology Widely-spaced incisors Renal artery stenosis Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Recurrent cystitis Gingival recession Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of the scapula Generalized hypotrichosis Glue ear Nyctalopia Absent sternal ossification Unilateral breast hypoplasia Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Multiple skeletal anomalies Generalized neonatal hypotonia Aplasia/Hypoplasia of the thumb Redundant neck skin Inverted nipples Precocious puberty in females Severe failure to thrive Abnormality of finger Hypoplastic labia majora Decreased skull ossification Abnormality of the neck Aplasia/Hypoplasia of the nipples Short upper lip Premature loss of primary teeth Bilateral microphthalmos Small earlobe Aplastic clavicle Congenital microcephaly Arrhinencephaly Wide cranial sutures Increased nuchal translucency Retinopathy Lymphadenopathy Cough Polyphagia Polyuria Pulmonary fibrosis Hydroureter Urinary urgency Truncal obesity Abnormal retinal morphology Chorioretinal atrophy Agenesis of permanent teeth Diabetes insipidus Progressive sensorineural hearing impairment Glomerulopathy Glycosuria Bronchitis Hyperuricemia Increased number of teeth Urinary retention Glucose intolerance Hyperglycemia Pericarditis Aplasia/Hypoplasia of the cerebellum Vertical nystagmus Chronic otitis media Obsessive-compulsive behavior Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Hyperostosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Constriction of peripheral visual field Impaired vibratory sensation Acne Subcapsular cataract Thoracic scoliosis Frontal balding High-frequency hearing impairment Gingivitis Pendular nystagmus Abnormal renal morphology Menstrual irregularities Tubulointerstitial nephritis Decreased HDL cholesterol concentration Ovarian cyst Restrictive cardiomyopathy Endocardial fibroelastosis Attenuation of retinal blood vessels Elevated serum creatinine Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Ketoacidosis Broad foot Autoimmune thrombocytopenia Tubulointerstitial fibrosis Severe sensorineural hearing impairment Hypoventilation Arteriosclerosis Elevated C-reactive protein level Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Alopecia of scalp Retinal pigment epithelial atrophy Hyperventilation Poor coordination Testicular atrophy Oligomenorrhea Posterior subcapsular cataract Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Increased total bilirubin Hematemesis Dilated cardiomyopathy Pigmentary retinopathy Squared iliac bones Albuminuria Urinary incontinence Round face Decreased testicular size Progressive visual loss Specific learning disability Hepatitis Abnormality of the pituitary gland Optic disc pallor Type II diabetes mellitus Epidermal acanthosis Hypertriglyceridemia Abnormal muscle tone Involuntary movements Chronic diarrhea Anorexia Urethral obstruction Abdominal distention Abnormality of retinal pigmentation ST segment depression Generalized tonic-clonic seizures Ophthalmoplegia Carious teeth Delayed puberty Dry skin Retinal degeneration Multifocal atrial tachycardia Facial hirsutism Sleep disturbance Acute hepatic failure Hepatic necrosis Hypoplastic male external genitalia Stage 5 chronic kidney disease Nausea Retinal dystrophy Hepatic steatosis Nephropathy Female hypogonadism Insulin resistance Nephritis Abnormality of the hand Hypercholesterolemia Cone/cone-rod dystrophy Chronic infection Abnormal spermatogenesis Goiter Decreased glomerular filtration rate Polycystic ovaries Cholelithiasis Pancreatitis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Lipodystrophy Polydipsia First degree atrioventricular block Melena Prominence of the premaxilla Abnormality of the urethra Hyperlipidemia Decreased liver function Horizontal nystagmus Impaired temperature sensation Hepatic fibrosis Hyperpigmentation of the skin Gynecomastia Hypergonadotropic hypogonadism Recurrent pneumonia Urethral stricture Hypogonadotrophic hypogonadism Lumbar scoliosis Nephrocalcinosis Absence seizures Macular degeneration Acanthosis nigricans Abnormal chorioretinal morphology Atherosclerosis Epigastric pain Abnormality of dental color Bullet-shaped middle phalanges of the hand Calcification of cartilage Short mandibular rami Arteriovenous malformation Cortical dysplasia Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Central hypotonia Double outlet right ventricle Calvarial skull defect Abnormality of the lower limb Supernumerary nipple Hypoplastic fingernail Pulmonary artery atresia Abnormality of the upper limb Congenital hepatic fibrosis Porencephalic cyst Periventricular leukomalacia Chylothorax Hypoplastic left heart Leukopenia Absent hand Finger syndactyly Multiple carpal ossification centers Deviation of the 5th finger Fixed elbow flexion Hypertonia Thrombocytopenia EEG abnormality Prominent nasal bridge Leukemia Meningitis Cleft upper lip Esotropia Nail dysplasia Hemiparesis Split hand Encephalocele Telangiectasia Aplastic/hypoplastic toenail Absent fingernail Generalized bone demineralization Abnormality of vision Low posterior hairline Short palpebral fissure Hypertrichosis Heterotopia Low anterior hairline Scrotal hypoplasia Oligodontia Redundant skin Sepsis Large hands Bilateral cryptorchidism Reduced subcutaneous adipose tissue Natal tooth Anteriorly placed anus Prematurely aged appearance Hypoplastic nipples Convex nasal ridge Triangular face Venous malformation Downslanted palpebral fissures Abnormal pulmonary valve morphology Absent toe Periventricular cysts Imperforate hymen Acrania Aplasia cutis congenita over posterior parietal area Aplasia cutis congenita on trunk or limbs Posteriorly rotated ears Hypoplasia of the maxilla Brachycephaly Abnormality of the eye Abnormality of the foot Smooth philtrum Astigmatism Pulmonary hypoplasia Everted lower lip vermilion Limited hip extension Intervertebral disc degeneration Turricephaly Camptodactyly of finger Right atrial enlargement Flexion contracture Severe short stature Arthralgia Arthritis Camptodactyly Hyperlordosis Highly arched eyebrow Prominent scalp veins Short metacarpal Waddling gait Wide intermamillary distance Limb undergrowth Lumbar hyperlordosis Abnormal form of the vertebral bodies Rhizomelia Calcinosis cutis Portal vein thrombosis Bilateral single transverse palmar creases Ischemic stroke Myopathy Proximal muscle weakness Attention deficit hyperactivity disorder Stroke Abnormality of the cerebral white matter Hip dysplasia Hyperammonemia Patent foramen ovale Hypersplenism Abnormality of the coagulation cascade Spastic diplegia Progressive proximal muscle weakness Dystrophic toenail Calcinosis Right ventricular failure Cavernous hemangioma Spina bifida Joint dislocation Tricuspid stenosis Frontal upsweep of hair Small epiphyses Shield chest Irregular epiphyses Coronal cleft vertebrae Hypoplasia of the capital femoral epiphysis Flattened epiphysis Ulnar bowing Spinal deformities Disproportionate short-trunk short stature Abnormality of the carpal bones Decreased hip abduction Knee dislocation Multiple joint dislocation Shoulder dislocation Sclerotic vertebral endplates Narrow vertebral interpedicular distance Enlarged joints Mitral stenosis Spina bifida occulta Bilateral talipes equinovarus Aortic regurgitation Widely spaced teeth Delayed gross motor development Elbow dislocation Cubitus valgus Spondyloepiphyseal dysplasia Hypoplasia of the ulna Hallux valgus Short 4th metacarpal Short femoral neck Vertebral fusion Arthropathy Thoracic kyphosis Abnormality of the elbow Barrel-shaped chest High anterior hairline Underdeveloped supraorbital ridges Coronal craniosynostosis Laryngeal hypoplasia Sclerosis of skull base Misalignment of teeth Osteolytic defects of the phalanges of the hand Hypoplastic pelvis Abnormal cortical bone morphology Small face Craniofacial hyperostosis Complete atrioventricular canal defect Tricuspid valve prolapse Atrioventricular canal defect Ureteral stenosis Prune belly Long neck Urethral atresia Megacystis Frontal hirsutism Abnormality of the pubic bone Cone-shaped epiphyses of the phalanges of the hand Long fingers Obtuse angle of mandible Renal hypoplasia Cartilaginous ossification of larynx Gait disturbance Narrow chest Facial asymmetry Full cheeks Nevus Abnormality of the ribs Osteoarthritis Delayed cranial suture closure Abnormality of the metaphysis Hoarse voice Coxa valga Prominent supraorbital ridges Melanocytic nevus Ectopic kidney Thoracic hypoplasia Ureteral obstruction Anterior concavity of thoracic vertebrae Cartilaginous ossification of nose Villous atrophy Hypoplasia of the odontoid process Poor appetite Megalocornea Shallow orbits Obstructive sleep apnea Choanal stenosis Upper airway obstruction Abnormality of the larynx Slender long bone Short sternum Eclabion Dicarboxylic aciduria Atlantoaxial dislocation Irregular dentition Septo-optic dysplasia Macrogyria Spinal canal stenosis Overfolded helix Cerebral atrophy Open mouth Apnea Bruising susceptibility Recurrent fractures Aciduria Overgrowth Blue sclerae Choanal atresia Thin skin Increased susceptibility to fractures Decreased body weight Tall stature Gingival overgrowth Sleep apnea Reduced bone mineral density Laryngomalacia Incoordination Premature fusion of phalangeal epiphyses Calcification of the auricular cartilage Abnormal eyelid morphology Beaking of vertebral bodies Abnormality of the face Increased intracranial pressure Recurrent upper respiratory tract infections Distal arthrogryposis Protuberant abdomen Insomnia Edema of the lower limbs Communicating hydrocephalus Limitation of joint mobility Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla J-shaped sella turcica Morphological abnormality of the central nervous system Abnormality of the cardiovascular system Macroglossia Urinary glycosaminoglycan excretion Absent distal phalanges Premature skin wrinkling Deep palmar crease Pneumothorax Hypoplasia of the musculature Dermal translucency Absence of subcutaneous fat Upper eyelid coloboma Wide nasal ridge Joint stiffness Hypoplasia of the abdominal wall musculature Congenital craniofacial dysostosis Aplastic/hypoplastic lacrimal glands Aplasia/Hypoplasia of the nasal bone Coarse facial features Aggressive behavior Developmental regression Heparan sulfate excretion in urine Anisopoikilocytosis Costal cartilage calcification Peripheral pulmonary artery stenosis Nasal speech Mixed hearing impairment Recurrent sinusitis Epiphyseal stippling Chronic sinusitis Short hallux Thyroid carcinoma Shortening of all distal phalanges of the fingers Deep philtrum Short nail Papillary thyroid carcinoma Abdominal aortic aneurysm Pulmonary artery hypoplasia Arterial calcification Tracheal atresia Soft, doughy skin Dermal atrophy Growth abnormality Short digit Carcinoma Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Focal seizures, afebril Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids Osteoporosis Long face Cutis laxa Wide nose Underdeveloped nasal alae Memory impairment Cerebral calcification Sloping forehead Leukodystrophy Spontaneous abortion Abnormality of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Dysphagia, related diseases and genetic alterations Hepatomegaly and Postaxial polydactyly, related diseases and genetic alterations Neuroblastoma and Telangiectasia, related diseases and genetic alterations Congestive heart failure and Inguinal hernia, related diseases and genetic alterations Tremor and Retinal detachment, related diseases and genetic alterations Scoliosis and Erythema, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more