Intrauterine growth retardation, and Thin vermilion border

Diseases related with Intrauterine growth retardation and Thin vermilion border

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Thin vermilion border that can help you solving undiagnosed cases.

Top matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Medium match TETRALOGY OF FALLOT

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

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Thin vermilion border

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Thin vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Thin upper lip vermilion Low-set ears Microcephaly Hypertelorism Ptosis Delayed speech and language development Deeply set eye Seizures Cryptorchidism Generalized hypotonia Short stature Wide nasal bridge Broad nasal tip Hypoplasia of the corpus callosum Wide mouth Long philtrum Triangular face Anteverted nares

Rare Symptoms - Less than 30% cases

Short chin Infra-orbital crease Wide nose Prominent forehead Atrial septal defect High palate Flexion contracture Underdeveloped supraorbital ridges Abnormal heart morphology Short philtrum Patent ductus arteriosus Ventricular septal defect Brachydactyly Anemia Posteriorly rotated ears Pes planus Synophrys Abnormal cardiac septum morphology Cutis laxa Clinodactyly Smooth philtrum Epicanthus Small for gestational age Failure to thrive Small hand Brachycephaly Short foot Intellectual disability, mild Obesity Abnormality of the kidney Recurrent respiratory infections Premature skin wrinkling Proptosis Arrhythmia Clinodactyly of the 5th finger Respiratory tract infection Abnormality of cardiovascular system morphology Congestive heart failure Dyspnea Broad forehead Dextrocardia Paralysis Clitoral hypertrophy Dolichocephaly Pulmonic stenosis Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Respiratory distress Muscle weakness Biventricular hypertrophy Pointed chin Downslanted palpebral fissures Telecanthus Postnatal growth retardation Increased serum bile acid concentration Abnormality of the pinna High, narrow palate Narrow forehead Broad-based gait Decreased body weight Hemivertebrae Clubbing Sacral dimple Abnormality of the clitoris Severe intrauterine growth retardation Deep palmar crease Functional respiratory abnormality Micronodular cirrhosis Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Easy fatigability Heart murmur Cirrhosis Short metatarsal Severe global developmental delay Astigmatism Delayed myelination Short metacarpal Hepatic fibrosis Short palpebral fissure Telangiectasia Pancytopenia Coarctation of aorta Laryngomalacia Delayed ability to walk Wide anterior fontanel Oligohydramnios Pseudohypoparathyroidism Asthma Frontal hirsutism Hepatomegaly Edema Splenomegaly Thrombocytopenia Abnormal bleeding Hepatosplenomegaly Hydronephrosis Retrognathia Malar flattening Preauricular pit Deep philtrum Polycythemia Patent foramen ovale Poor suck Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Short neck Abnormal nasal morphology Situs inversus totalis Hydrops fetalis Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Strabismus Decreased liver function Abnormality of the skeletal system Frontal bossing Inguinal hernia Dermal translucency Cerebellar vermis hypoplasia Frequent falls Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Hearing impairment Sensorineural hearing impairment Visual impairment Immunodeficiency Micropenis Sepsis Brain atrophy Pachygyria Prominent nose CNS hypomyelination Combined immunodeficiency Cortical gyral simplification Severe vision loss Severe combined immunodeficiency Recurrent lower respiratory tract infections Overlapping fingers Recurrent aphthous stomatitis Scoliosis Micrognathia Hypertension Talipes equinovarus Intention tremor Everted lower lip vermilion Respiratory failure Truncal obesity Muscular hypotonia Delayed skeletal maturation Hypogonadism Neonatal hypotonia Bulbous nose Decreased testicular size Specific learning disability Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Sparse body hair Falls Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Pain Tremor Elevated serum creatine phosphokinase Upslanted palpebral fissure Autism Abnormality of the nervous system Autistic behavior Unsteady gait Myopathy Polyhydramnios Narrow nasal ridge Sparse hair Long eyelashes Low anterior hairline Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Abnormal corpus callosum morphology Thick nasal alae Hernia Osteoporosis Glaucoma Blepharophimosis Thick lower lip vermilion Hip dislocation Underdeveloped nasal alae Blue sclerae Fine hair Thin skin Large fontanelles Elbow flexion contracture Narrow palpebral fissure Pyloric stenosis Athetosis Congenital glaucoma Excessive wrinkled skin Sparse scalp hair Small nail Kyphoscoliosis Cardiorespiratory arrest Camptodactyly Arthrogryposis multiplex congenita Talipes Pulmonary hypoplasia Decreased fetal movement Joint contracture of the hand Adducted thumb Pterygium Congenital contracture Bilateral talipes equinovarus Ankylosis Preeclampsia Dandy-Walker malformation Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Feeding difficulties Recurrent infections Absent speech Cerebellar hypoplasia Coarse facial features Arachnodactyly Thick eyebrow Short distal phalanx of finger Abnormality of glutamine metabolism


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