Intrauterine growth retardation, and Wide nose

Diseases related with Intrauterine growth retardation and Wide nose

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

Top matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

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

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Other less relevant matches:

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

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Wide nose

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Wide nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Small for gestational age Anteverted nares Generalized hypotonia Growth delay Hypertelorism Wide nasal bridge Cleft palate Feeding difficulties Dandy-Walker malformation Wide mouth Thin upper lip vermilion Ptosis Hearing impairment Coarse facial features Thick eyebrow Sparse scalp hair Long eyelashes Abnormal corpus callosum morphology Cerebellar hypoplasia Severe global developmental delay Micrognathia Craniosynostosis Oligohydramnios Epicanthus Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Abnormality of the skeletal system Macroglossia Hirsutism Syndactyly Hypospadias Delayed skeletal maturation Cryptorchidism Abnormality of cardiovascular system morphology Short nose Visual impairment Telecanthus Clinodactyly Hypertrichosis Aplasia/Hypoplasia of the corpus callosum Cortical gyral simplification Short neck Talipes Thick nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Hypoplasia of the corpus callosum Abnormal heart morphology Short distal phalanx of finger Posteriorly rotated ears Small nail Microphthalmia Ventricular septal defect Intellectual disability, profound Vesicoureteral reflux Micropenis Scoliosis Broad nasal tip Failure to thrive Sparse hair Delayed speech and language development Upslanted palpebral fissure Brachycephaly Immunodeficiency Bulbous nose Optic atrophy Peripheral pulmonary artery stenosis Duane anomaly Lop ear Pelvic kidney Abnormality of the pinna 4-5 toe syndactyly Mitral atresia Spasticity Brachydactyly Anemia Bicornuate uterus Cerebral atrophy Joint laxity Myoclonus Aggressive behavior Muscular hypotonia of the trunk Intellectual disability, moderate Poor speech Downturned corners of mouth Hypoplasia of the maxilla Labial hypoplasia Rectovaginal fistula Retinal dystrophy Bicuspid aortic valve Single transverse palmar crease Hepatomegaly Renal agenesis Spina bifida Horseshoe kidney Spina bifida occulta Anal atresia Toe syndactyly Aortic regurgitation Hypoplasia of the radius Eyelid coloboma Clitoral hypertrophy Ectopic kidney Macular dystrophy Anal stenosis Syringomyelia Abnormal cardiac septum morphology Sloping forehead Narrow nose Pulmonary artery stenosis Delayed myelination Wide anterior fontanel Ventricular hypertrophy Combined immunodeficiency Generalized myoclonic seizures Amenorrhea Ambiguous genitalia Primary amenorrhea Hyperpigmentation of the skin Sarcoma Myelodysplasia Limb-girdle muscular dystrophy Nephroblastoma Bifid scrotum Acute lymphoblastic leukemia Generalized tonic-clonic seizures Severe intrauterine growth retardation Multiple renal cysts Acute leukemia Mild microcephaly Short sternum Rhabdomyosarcoma Triangular mouth Cerebral hypoplasia Premature chromatid separation Embryonal rhabdomyosarcoma Renal cyst Muscular dystrophy Tetraparesis Hemiclonic seizures Clinodactyly of the 5th finger Progressive microcephaly Short toe Spastic tetraparesis Patent foramen ovale Long palpebral fissure Central hypotonia Short 5th finger Right ventricular hypertrophy Capillary malformation Abnormal hair whorl Leukemia Nystagmus Neoplasm Cataract Ventriculomegaly Hydrocephalus Long philtrum Malar flattening Midface retrusion High forehead Feeding difficulties in infancy Postnatal growth retardation Hydronephrosis Lobar holoprosencephaly Renal insufficiency Intractable diarrhea Slender finger Dystrophic toenail High palate Thick vermilion border Delayed eruption of permanent teeth Lacrimal duct aplasia Decreased serum iron Uncombable hair Pili canaliculi Talipes equinovarus Chronic hepatitis Sandal gap Bloody diarrhea Respiratory failure Narrow mouth Hypochromic microcytic anemia Narrow chest Trichorrhexis nodosa Micromelia Convex nasal ridge Limb undergrowth Villous atrophy Hypoplastic toenails Low anterior hairline Woolly hair Autistic behavior Impaired social interactions Mildly elevated creatine phosphokinase Cupped ear Frequent falls Intention tremor Prominent nose Everted lower lip vermilion Falls Unsteady gait Smooth philtrum Abnormality of the nervous system Thick lower lip vermilion Autism Elevated serum creatine phosphokinase Atrial septal defect Recurrent infections Absent speech Intellectual disability, mild Tremor Short philtrum Arachnodactyly Pain Short palpebral fissure Abnormality of the hand Diarrhea Ectrodactyly Split hand Encephalocele Holoprosencephaly Cutaneous syndactyly Poor head control Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Abnormality of digit Absent septum pellucidum Aplasia/Hypoplasia of the radius Ectodermal dysplasia Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Hypernatremia Duplication of thumb phalanx Hypoplasia of the frontal bone Muscular hypotonia Myopia Hypotelorism Oral cleft Microcytic anemia Downslanted palpebral fissures Absent thumb Cystic hygroma Oligodactyly Absent radius Short tibia Humeroradial synostosis Forearm undergrowth Aplasia of the ulna Colitis Brittle hair Respiratory insufficiency Cleft upper lip Chronic diarrhea Hepatitis Cirrhosis Hypogonadism Neonatal hypotonia Abnormality of the liver Cleft lip Low-set, posteriorly rotated ears Protruding ear Prominent forehead Hypodysplasia of the corpus callosum


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