Growth delay, and Tetralogy of Fallot

Diseases related with Growth delay and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Growth delay and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Kyphoscoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Other less relevant matches:

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Top 5 symptoms//phenotypes associated to Growth delay and Tetralogy of Fallot

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cryptorchidism Hypertelorism Hearing impairment Atrial septal defect Failure to thrive Short nose Intrauterine growth retardation Scoliosis Cleft palate Patent ductus arteriosus Abnormal cardiac septum morphology High palate

Rare Symptoms - Less than 30% cases

Behavioral abnormality Hyperactivity Autism Anxiety Double outlet right ventricle Truncus arteriosus Ventricular hypertrophy Abnormal facial shape Brachydactyly Highly arched eyebrow Specific learning disability Anemia Vesicoureteral reflux Generalized hypotonia Strabismus Short neck Congestive heart failure Coarctation of aorta Pulmonary artery atresia Seizures Ventriculomegaly Hypoplasia of the corpus callosum Talipes equinovarus Abnormal heart morphology Retrognathia Muscular hypotonia Abnormality of cardiovascular system morphology Intellectual disability, mild Choanal atresia Recurrent otitis media Hydrocephalus Bifid tongue Partial duplication of thumb phalanx Osteopenia Polyhydramnios Neutropenia Atresia of the external auditory canal Short thumb Clubbing of fingers Horseshoe kidney Recurrent infections Triphalangeal thumb Median cleft lip Inverted nipples Prominent metopic ridge Abnormality of digit Macrocytic anemia Sprengel anomaly Recurrent lower respiratory tract infections Osteoporosis Hallucinations Neoplasm Spasticity Hypospadias Glaucoma Frontal bossing Gastroesophageal reflux Macrocephaly Intellectual disability, moderate Increased mean corpuscular volume Autistic behavior Attention deficit hyperactivity disorder Cataract Constrictive median neuropathy Hip dislocation Central Y-shaped metacarpal Short middle phalanx of the 2nd finger Arthrogryposis multiplex congenita Hip dysplasia Short 2nd finger Hypertonia Schizophrenia Relative macrocephaly Esophagitis Wide intermamillary distance Secundum atrial septal defect Congenital diaphragmatic hernia Apathy Flat occiput Aphasia Dysphasia Absent septum pellucidum Protruding tongue Epileptic spasms Echolalia Abnormality of the testis Femoral hernia Spontaneous abortion Subcortical cerebral atrophy Pulmonary arterial hypertension Optic disc pallor Aortic regurgitation Conotruncal defect Cerebral cortical hemiatrophy Visual impairment Hypertension Myopia Long philtrum Microphthalmia Hernia Posteriorly rotated ears Upslanted palpebral fissure High forehead Telecanthus Renal agenesis Mutism Absence seizures Reticulocytopenia Obesity Fetal distress Vitamin D deficiency Aplasia cutis congenita Small hypothenar eminence Uterine neoplasm Delayed myelination Feeding difficulties Erythroderma Sandal gap Short ribs Anteverted nares Renal insufficiency Midface retrusion Depressivity Aortic valve stenosis Inguinal hernia Agenesis of corpus callosum Brachycephaly Cerebral cortical atrophy Irritability Synophrys Downturned corners of mouth Everted lower lip vermilion Sleep disturbance Macroglossia Short chin Hypoplasia of penis Status epilepticus CNS hypomyelination Endocarditis Decreased body weight Postaxial hand polydactyly Nasal speech Broad hallux Transposition of the great arteries Submucous cleft hard palate Hypoparathyroidism Maternal diabetes Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Hydronephrosis Finger syndactyly Anal atresia Aganglionic megacolon Short palpebral fissure Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Urethral stricture Hydrometrocolpos Glandular hypospadias Sensorineural hearing impairment Hypocalcemia Bifid uvula Syndactyly Short long bone Gait disturbance Kyphosis Kyphoscoliosis Skeletal dysplasia Pes planus Hyperlordosis Platyspondyly Genu valgum Micromelia Recurrent fractures Waddling gait Coxa vara Genu varum Postaxial polydactyly Metaphyseal irregularity Mild short stature Short femoral neck Hypoplasia of the odontoid process Beaking of vertebral bodies Abnormality of the wrist Ovoid vertebral bodies Spondylometaphyseal dysplasia Hyperconvex vertebral body endplates Depressed nasal bridge Abnormality of metabolism/homeostasis Severe short stature Narrow mouth Epicanthus Postnatal growth retardation Renal hypoplasia Abnormal nasal morphology Easy fatigability Clubbing Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Right ventricular hypertrophy Breathing dysregulation Interrupted aortic arch Right ventricular failure Overriding aorta Sinusitis Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Low-set ears Delayed speech and language development Prominent forehead Polydactyly Micropenis Cleft lip Narrow chest High, narrow palate Prominent nose Dental malocclusion Increased body weight Hemiparesis Wide mouth Premature chromatid separation Coloboma Smooth philtrum Abnormality of skin pigmentation Single transverse palmar crease Sloping forehead Bilateral sensorineural hearing impairment Cupped ear Cutis marmorata 2-3 toe syndactyly Chromosome breakage Optic nerve coloboma Small face Hypoplasia of the cochlea Cyanosis Muscle weakness Respiratory distress Arrhythmia Clinodactyly of the 5th finger Recurrent respiratory infections Proptosis Dyspnea Respiratory tract infection Paralysis Broad forehead Dolichocephaly Pulmonic stenosis Thin vermilion border Ureteral duplication


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ptosis and Hyperhidrosis, related diseases and genetic alterations Pain and Omphalocele, related diseases and genetic alterations Flexion contracture and Myeloid leukemia, related diseases and genetic alterations Peripheral neuropathy and Pes planus, related diseases and genetic alterations Cleft palate and Renal insufficiency, related diseases and genetic alterations