Intrauterine growth retardation, and Facial asymmetry

Diseases related with Intrauterine growth retardation and Facial asymmetry

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

Top matches:

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Other less relevant matches:

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match CRI-DU-CHAT SYNDROME

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Failure to thrive Ventricular septal defect Low-set ears Low-set, posteriorly rotated ears Abnormal facial shape Muscular hypotonia Wide nasal bridge Clinodactyly Camptodactyly of finger Generalized hypotonia Pes planus Short nose Long philtrum Inguinal hernia Long face Narrow mouth Pointed chin Abnormality of the pinna Delayed speech and language development Narrow face Abnormality of the skeletal system Hypospadias Hyperactivity Clinodactyly of the 5th finger Postnatal growth retardation Abnormal heart morphology Blepharophimosis Single transverse palmar crease Abnormality of the kidney Short thumb Tracheoesophageal fistula Upslanted palpebral fissure Thin upper lip vermilion Finger syndactyly Aggressive behavior Small for gestational age Dolichocephaly Severe global developmental delay Intellectual disability, moderate Anemia Sandal gap Small hand Smooth philtrum Joint hyperflexibility Prominent nasal bridge Tapered finger Underdeveloped nasal alae Highly arched eyebrow Patent ductus arteriosus Behavioral abnormality Ventriculomegaly Malar flattening Posteriorly rotated ears Feeding difficulties Thick lower lip vermilion Anxiety Ptosis Joint laxity Esophageal atresia Hydrocephalus Atrial septal defect Intellectual disability, mild Broad forehead

Rare Symptoms - Less than 30% cases

Wide nose Round face Growth hormone deficiency Thick eyebrow Nystagmus Thin vermilion border Synophrys Craniosynostosis Delayed myelination Short philtrum Intellectual disability, severe Hypertonia Chromosome breakage Macrotia High forehead Brachycephaly Prominent forehead Perineal fistula Delayed skeletal maturation Dilatation Dysphagia Depressed nasal bridge Stereotypy Aplasia/Hypoplasia of the radius Narrow nasal bridge Arachnodactyly Abnormal vertebral morphology Hypoplasia of the corpus callosum Renal dysplasia Pes cavus Hypoplasia of the radius Vesicoureteral reflux Recurrent urinary tract infections Bowing of the long bones Choanal atresia Premature birth High, narrow palate Dental malocclusion Short palm Prominent nose Rectovaginal fistula Toe syndactyly Attention deficit hyperactivity disorder Hyperlordosis Deeply set eye Immunodeficiency Pancytopenia Anal atresia Abnormal cardiac septum morphology Agenesis of corpus callosum Hydronephrosis Absent radius Autism Short attention span Hernia Gastroesophageal reflux Polyhydramnios Anteriorly placed anus Telecanthus Conductive hearing impairment Microretrognathia Hypogonadism Pectus excavatum Abnormality of the outer ear Talipes equinovarus Optic atrophy Abnormality of nervous system morphology Myopia Shallow orbits Mild short stature Oral cleft Patent foramen ovale Conspicuously happy disposition Short palpebral fissure Interphalangeal joint contracture of finger Triangular face Sensorineural hearing impairment Frontal bossing Anteverted nares Wide mouth Respiratory distress Neonatal hypotonia Syndactyly Large fontanelles Pulmonary hypoplasia Webbed neck Feeding difficulties in infancy Preauricular skin tag Rib fusion Polymicrogyria Bifid uvula Abnormality of the sternum Vertebral segmentation defect Congenital diaphragmatic hernia Small nail Spina bifida occulta Hypoplasia of penis Aortic aneurysm Abnormality of the genital system Cognitive impairment Functional respiratory abnormality Anomalous splenoportal venous system Gastrointestinal atresia Self-mutilation Long palm Large fleshy ears Short metacarpal Hallucinations Dysplastic corpus callosum Anisocoria Difficulty walking Flared nostrils Prominent supraorbital ridges Postural instability Intestinal malrotation Renal agenesis Tetralogy of Fallot Cleft lip Ambiguous genitalia Abnormality of the ribs Aspiration Omphalocele Premature graying of hair Midface capillary hemangioma Toe clinodactyly Horseshoe kidney Short metatarsal Medial flaring of the eyebrow Abnormality of the proximal phalanx of the thumb Abnormality of bone mineral density Congestive heart failure Hyperacusis Auditory hallucinations High-pitched cry Cat cry Anterior open-bite malocclusion Oppositional defiant disorder Facial grimacing Poor suck Metatarsus adductus Overfriendliness Short neck Recurrent infections in infancy and early childhood Pneumonia Cataract Polydactyly Aphalangy of the hands Downturned corners of mouth Echolalia Recurrent fractures Diastasis recti Respiratory tract infection High pitched voice Spasticity Stenosis of the external auditory canal Tachycardia Delusions High axial triradius Occipital encephalocele Situs inversus totalis Lymphoma Short humerus Aplasia/Hypoplasia of the thumb Absent thumb Hallux valgus Hypoplasia of the ulna Trigonocephaly Failure to thrive in infancy Abnormality of the metacarpal bones Hypotelorism Malabsorption Fibular hypoplasia Skin rash Proptosis Thrombocytopenia Motor delay Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Bilateral radial aplasia Aplasia of metacarpal bones Oligodactyly Flat forehead Limited shoulder movement Oxycephaly Brachyturricephaly Metopic synostosis Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Anterior plagiocephaly Abnormal localization of kidney Abnormality of the ureter Sagittal craniosynostosis Bilateral conductive hearing impairment Abnormality of the carpal bones Poikiloderma Osteosarcoma Urogenital fistula Choanal stenosis Coronal craniosynostosis Carpal synostosis Bicoronal synostosis Potter facies Spina bifida Preaxial hand polydactyly Wheezing Transposition of the great arteries Non-midline cleft lip Hypoplastic left heart Right bundle branch block Bundle branch block Ectopic kidney Persistent cloaca Dextrocardia Unilateral renal agenesis Aplasia/Hypoplasia of the lungs Carpal bone aplasia Bifid scrotum Triphalangeal thumb Radioulnar synostosis Preaxial polydactyly Laryngomalacia Tachypnea Multicystic kidney dysplasia Hemivertebrae Anencephaly Missing ribs Abnormality of the gallbladder Abnormality of the nasopharynx Hemifacial hypoplasia Thick nasal alae Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormal sacrum morphology Single umbilical artery Supernumerary ribs Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Duodenal atresia Tracheal stenosis Deep plantar creases Convex nasal ridge Unilateral cryptorchidism Flat face Finger clinodactyly Generalized hirsutism Short toe Rhizomelia Long eyelashes Broad-based gait Hypertrichosis Hirsutism Neurological speech impairment Accelerated skeletal maturation Constipation Absence of labia majora Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Multiple pterygia Narrow palpebral fissure Sacral dimple Abnormal aortic valve morphology Psychomotor deterioration Dilatation of renal calices Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Anteverted ears Abnormal corpus callosum morphology Infantile muscular hypotonia Broad philtrum Depressed nasal tip Abnormality of the elbow Narrow nose Short middle phalanx of finger Bilateral ptosis Abnormality of the hand Delayed gross motor development Abnormality of the tongue Aplasia/Hypoplasia of the abdominal wall musculature Neoplasm Long fingers Abnormality of vision Plagiocephaly Mitral valve prolapse Full cheeks Abnormality of the eye Mild intrauterine growth retardation Lacrimal duct stenosis Periorbital fullness Sparse eyebrow Rocker bottom foot Waddling gait Gliosis Abnormality of the cerebral white matter Hypothyroidism Absent speech Dystonia Abnormality of the dentition Tremor Redundant skin Tricuspid regurgitation Symphalangism affecting the phalanges of the hand Nevus Abnormal eyelid morphology Hearing abnormality Aplasia/Hypoplasia of the skin Neonatal respiratory distress Pterygium Scrotal hypoplasia Low posterior hairline Limitation of joint mobility Abnormality of movement Thoracic hypoplasia Abnormality of the foot Arthrogryposis multiplex congenita Umbilical hernia Gait disturbance Skeletal muscle atrophy Secundum atrial septal defect Ventricular extrasystoles External genital hypoplasia Elbow hypertrichosis Depressivity Wide nasal base Obesity Sleep disturbance Iris coloboma Hypermetropia Autistic behavior Protruding ear Developmental regression Muscular hypotonia of the trunk Micropenis Recurrent infections Open mouth Microphthalmia Brachydactyly Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Fine hair Cafe-au-lait spot Selective tooth agenesis Slender finger Thick hair Intestinal atresia Microphallus Overlapping fingers Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Radial deviation of finger Sparse and thin eyebrow Cupped ear Proximal placement of thumb Abnormality of the thorax Abnormality of the voice Nasal speech Widely spaced teeth Bilateral single transverse palmar creases Hoarse voice Lumbar scoliosis Acute monocytic leukemia Recurrent respiratory infections Truncus arteriosus Severe short stature Kyphosis Branchial fistula Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Ulnar deviation of finger Microtia Bowel incontinence Obsessive-compulsive behavior Language impairment Pyloric stenosis Aortic regurgitation Oculomotor apraxia Coxa valga Short distal phalanx of finger Retrognathia Leukemia 11 pairs of ribs Clitoral hypertrophy Abnormal cortical gyration Abnormally large globe Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Dislocated radial head Acute myeloid leukemia Myeloid leukemia Myelodysplasia Hip dislocation Narrow palate Elbow flexion contracture Dental crowding Hypoplasia of dental enamel Pachygyria Cerebellar vermis hypoplasia Sloping forehead Talipes Pulmonic stenosis Unilateral radial aplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Pectus carinatum, related diseases and genetic alterations