Brachydactyly, and Abdominal pain

Diseases related with Brachydactyly and Abdominal pain

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


Top matches:

Medium match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Medium match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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Other less relevant matches:

Low 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

Low 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

Low 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

Low 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

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low 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

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Abdominal pain

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Abdominal pain. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Short neck Vomiting Seizures Depressed nasal bridge Downslanted palpebral fissures Cleft palate Hernia Abnormal heart morphology Umbilical hernia Inguinal hernia Hydronephrosis Kyphoscoliosis Dental malocclusion Proptosis Flexion contracture Neoplasm Pectus excavatum Failure to thrive Gastroesophageal reflux Ptosis Wide nasal bridge Abnormality of the skeletal system Syndactyly Radial deviation of finger Patent ductus arteriosus Hypotrichosis Pulmonic stenosis Macrocephaly Feeding difficulties Short nose Posteriorly rotated ears Malar flattening Epicanthus Intrauterine growth retardation Hemivertebrae Vertebral fusion Joint laxity Abnormal cardiac septum morphology Anemia Cleft upper lip Hypodontia Midface retrusion Dilatation Short palm Frontal bossing Hypospadias Hydrocephalus Hearing impairment Constipation Spina bifida occulta Spasticity Sparse hair Generalized hypotonia Anteverted nares Alopecia Severe short stature Cataract Nystagmus Postnatal growth retardation

Rare Symptoms - Less than 30% cases


Dysphagia Sensorineural hearing impairment Micropenis Mandibular prognathia Coloboma Autistic behavior Pneumonia Recurrent respiratory infections Brachycephaly Weight loss Polyhydramnios Skeletal dysplasia Respiratory tract infection Abdominal distention Short metatarsal Short metacarpal Limb undergrowth Recurrent urinary tract infections Aspiration Muscle stiffness Drooling Disproportionate short-limb short stature Telecanthus Papule Microtia Arnold-Chiari malformation Cognitive impairment High palate Myopia Agenesis of corpus callosum Atrial septal defect Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Facial asymmetry Elevated alkaline phosphatase Delayed eruption of teeth Ulcerative colitis Colitis Short ribs Spina bifida Abnormality of the dentition Microphthalmia Iris coloboma Polydactyly Coarse facial features Abnormality of the pinna Clitoral hypoplasia Flat face Thin upper lip vermilion Thick vermilion border Macroglossia Ambiguous genitalia Thick lower lip vermilion Coxa valga Abnormality of digit Triangular mouth Delayed skeletal maturation Retrognathia Wide mouth Broad nasal tip Confusion Wide nose Nail dysplasia Horseshoe kidney Increased body weight Long eyelashes Renal hypoplasia Congenital diaphragmatic hernia Intestinal malrotation Recurrent infections Cleft lip Respiratory distress Behavioral abnormality Mild short stature Lymphedema Abnormality of the genital system Single transverse palmar crease Camptodactyly Depressivity Obesity Intellectual disability, mild Talipes equinovarus Short 5th finger Nausea Nail dystrophy Kyphosis Edema Perimembranous ventricular septal defect Bicuspid aortic valve Cardiomyopathy Hypertension Shawl scrotum Thoracolumbar scoliosis Volvulus Delayed speech and language development Hand polydactyly Abnormal palmar dermatoglyphics Visual impairment Muscular hypotonia Mixed hearing impairment Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Ridged fingernail Caudal appendage Plantar pits Ovarian fibroma Abnormality of the mediastinum Absence of the sacrum Cleft ala nasi Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Hypoplasia of the corpus callosum Open bite Vertebral wedging Thick eyebrow Papilloma Hypotelorism Eczema Tetralogy of Fallot Dandy-Walker malformation Growth hormone deficiency Inspiratory stridor Absent toenail Rough bone trabeculation Anophthalmia Hirsutism Short distal phalanx of finger Bulbous nose Patchy alopecia Astigmatism Synophrys Severe global developmental delay Short philtrum Abnormality of the middle ear Feeding difficulties in infancy Aggressive behavior Hypoglycemia Foot oligodactyly Absent fingernail Reticular hyperpigmentation Macule Upper limb asymmetry Parietal bossing Osteopathia striata Abnormality of the sense of smell Ectopia cordis Relative macrocephaly Neoplasm of the skin Abnormal adipose tissue morphology Hypogonadotrophic hypogonadism Bifid ureter Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Nephritis Palmoplantar keratoderma Postaxial polydactyly Linear hyperpigmentation Cholesteatoma Apocrine hidrocystoma Giant cell tumor of bone Oral cleft Midclavicular hypoplasia Hypermelanotic macule Arachnodactyly Carious teeth Supernumerary nipple Glomerulonephritis Melanocytic nevus Total anomalous pulmonary venous return Abnormality of the neck Fibroma Hamartomatous polyposis Nonproductive cough Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Short finger Broad face Neoplasm of the endocrine system Short 4th metacarpal Inflammation of the large intestine Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Abnormality of the pulmonary vasculature Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Decreased fetal movement Small nail Cerebellar vermis hypoplasia Hyperhidrosis Abnormality of the skin Ectodermal dysplasia Abnormality of skin pigmentation Abnormality of the foot Toe syndactyly Pruritus Corneal opacity Cough Camptodactyly of finger Scarring Erythema Reduced visual acuity Blindness Postaxial hand polydactyly Optic atrophy Short distal phalanx of the 5th toe Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Split foot Ectropion Chorioretinal coloboma Prominent interphalangeal joints Severe expressive language delay Premature thelarche Facial hypertrichosis Hiatus hernia Overgrowth Interphalangeal joint contracture of finger Stenosis of the external auditory canal Pointed chin Dermal atrophy Reduced number of teeth Facial cleft Recurrent skin infections Oligodontia Ectopia lentis Renal hypoplasia/aplasia Ectrodactyly Abnormality of dental enamel Multicystic kidney dysplasia Oligodactyly Congenital hip dislocation Short clavicles Split hand Abnormality of the nail Aplasia cutis congenita Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Telangiectasia Aniridia Foot polydactyly Hypoplasia of dental enamel Hypoplasia of the iris Subcutaneous nodule Omphalocele Thin skin Aplasia/Hypoplasia of the lungs Stridor Brittle hair Anomalous pulmonary venous return Ectopic kidney Anonychia Cutis marmorata Precocious puberty Hemangioma Telangiectasia of the skin Sacral dimple Aplasia/Hypoplasia of the skin Labial hypoplasia Accelerated skeletal maturation Cholangitis Hypoplasia of teeth Skin nodule Partial agenesis of the corpus callosum Bifid nose Generalized hirsutism Narrow nasal bridge Ureteral duplication Hand oligodactyly Abnormal cornea morphology Low anterior hairline Preauricular skin tag Tall stature Choanal atresia Sparse scalp hair Hypertrichosis Abnormality of hair texture Abnormality of dental morphology Anteriorly placed anus Intussusception Generalized hypertrichosis Duodenal ulcer Myelomeningocele Truncus arteriosus Diastasis recti Acute hepatic failure Ectopic posterior pituitary Hepatoblastoma Duodenal atresia Hypoplastic pelvis Gastric ulcer Lower limb asymmetry Hypoplastic nipples Verrucae Dislocated radial head Abnormality of the larynx Hypotrichosis of the scalp Anterior pituitary hypoplasia Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Rectal prolapse Aplasia of the uterus Short sternum Neoplasm of the liver Recurrent hypoglycemia Tics Enlarged cisterna magna Finger syndactyly Bruising susceptibility Facial palsy Premature birth Oral-pharyngeal dysphagia Elbow dislocation Hyperkinesis Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Meningitis Sinusitis Rhizomelia Encephalocele Lumbar hyperlordosis Otitis media Generalized myoclonic seizures Flat occiput Inability to walk Talipes Poor speech Narrow chest Generalized tonic-clonic seizures Hyperlordosis Anxiety Deeply set eye Macrotia Autism Respiratory failure Gait disturbance Hyperreflexia Cervical spine hypermobility Clubbing Spondyloepiphyseal dysplasia Increased upper to lower segment ratio Laryngeal stenosis Tapered finger Everted lower lip vermilion Irritability Intellectual disability, moderate Abnormality of metabolism/homeostasis Cerebral atrophy Hypertonia Intellectual disability, severe Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Aplasia/Hypoplasia of the ulna Tibial bowing Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Curved linear dimple below the lower lip Prominent umbilicus Aganglionic megacolon Carotid artery stenosis Rheumatoid arthritis Cachexia Abnormal intestine morphology Chronic diarrhea Bowing of the long bones Postural instability Genu valgum Malabsorption Nausea and vomiting Platyspondyly Arthritis Hypothyroidism Diarrhea Renovascular hypertension Scleroderma Renal artery stenosis Coronary artery stenosis Intellectual disability, borderline Arterial stenosis Gastritis Cutaneous finger syndactyly Increased susceptibility to fractures Cutaneous syndactyly Aortic regurgitation Finger clinodactyly Decreased body weight Specific learning disability Recurrent fractures Renal insufficiency Malnutrition Thoracic kyphosis Frontoparietal polymicrogyria Round face Osteochondritis Dissecans Hyperextensibility of the finger joints Broad philtrum Large earlobe Widow's peak Genu recurvatum Broad foot Hypoplasia of the odontoid process Macrocytic anemia Broad palm Interstitial pulmonary abnormality Increased intracranial pressure Generalized-onset seizure Hypoplasia of the maxilla Protein-losing enteropathy Short foot Polymicrogyria Joint hypermobility Cirrhosis Delayed puberty Hypermetropia Attention deficit hyperactivity disorder Pes planus Hyperactivity Hepatomegaly Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Renal agenesis Infantile muscular hypotonia Proteinuria Patent foramen ovale Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Cubitus valgus Myelodysplasia Failure to thrive in infancy Drusen Pterygium Poor suck Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Coarctation of aorta Amenorrhea Wide intermamillary distance Webbed neck Malignant hyperthermia Nonimmune hydrops fetalis Triangular face Loose anagen hair Carcinoma EEG abnormality Glaucoma Visual loss Dysarthria Motor delay Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Atrial flutter Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Abnormal bleeding High, narrow palate Tented upper lip vermilion Endometriosis External genital hypoplasia Mesomelia Delayed cranial suture closure Abnormal vertebral morphology Wide anterior fontanel Gingival overgrowth Dental crowding Broad thumb Small hand Hepatosplenomegaly Long philtrum Hypoganglionosis Hemoglobin H Reduced alpha/beta synthesis ratio Increased number of teeth Widely-spaced maxillary central incisors Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Hypochromic microcytic anemia Decreased serum testosterone level Chronic constipation Facial hypotonia Male pseudohermaphroditism Protruding tongue Microcytic anemia Hydroureter Spastic diplegia Long palpebral fissure Nevus flammeus Leukemia Absent uvula Broad forehead Hypertrophic cardiomyopathy Hypogonadism Rod-cone dystrophy Thrombocytopenia Headache Splenomegaly Congestive heart failure Fever Cervical agenesis Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Hypoplastic sacrum Double outlet right ventricle Thoracic hemivertebrae Aplasia/Hypoplasia involving the metacarpal bones Forearm undergrowth Broad toe Mesomelic short stature Renal duplication Delayed eruption of permanent teeth Normocytic anemia Short middle phalanx of the 5th finger Vaginal atresia Rib fusion Bifid tongue Hypoplastic labia majora Missing ribs Midclavicular aplasia



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