Intrauterine growth retardation, and Retrognathia

Diseases related with Intrauterine growth retardation and Retrognathia

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

Top matches:

Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

High match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Other less relevant matches:

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Retrognathia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Seizures Micrognathia Generalized hypotonia Wide nasal bridge Cryptorchidism Premature birth Arthrogryposis multiplex congenita Severe global developmental delay Myopia Abnormal facial shape Feeding difficulties Postnatal growth retardation Abnormality of the skeletal system Cognitive impairment Polyhydramnios Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Cleft palate Flexion contracture Visual impairment Low-set ears Macrocephaly Ventriculomegaly Hydrocephalus Ventricular septal defect Microretrognathia Hirsutism Dilatation Autism Hypoplasia of the brainstem Scoliosis Pes valgus Scaphocephaly Epicanthus Short neck Prominent nose Delayed speech and language development Oligohydramnios Astigmatism Loss of speech Agitation Abnormality of mitochondrial metabolism Opisthotonus Episodic fever Pendular nystagmus Narrow forehead Severe lactic acidosis Primitive reflex Diffuse leukoencephalopathy Frontoparietal polymicrogyria Progressive leukoencephalopathy Strabismus Ptosis Depressed nasal bridge Brachydactyly Frontal bossing Psychomotor deterioration Wide intermamillary distance Leukoencephalopathy Developmental regression Optic atrophy Respiratory distress Hypoplasia of the corpus callosum Edema Myopathy Cerebral atrophy Recurrent infections Encephalopathy Respiratory failure Acidosis Muscular hypotonia of the trunk Irritability Spastic tetraparesis Abnormal pyramidal sign Abnormality of the cerebral white matter Lactic acidosis Polymicrogyria Metabolic acidosis Tetraplegia Brain atrophy Long philtrum Spastic tetraplegia Tetraparesis Leukodystrophy Severe muscular hypotonia Anteverted nares Short metatarsal Malar flattening Posterior helix pit Narrow palate Delayed gross motor development Overlapping toe Buphthalmos Broad hallux Long nose Low hanging columella Preeclampsia Overbite Mild myopia Atrial septal defect Broad thumb Short nose Glaucoma Hypothyroidism Kyphoscoliosis Osteopenia Hypoglycemia Congenital glaucoma Nephrocalcinosis Broad forehead Hip dislocation Neutropenia Long eyelashes Convex nasal ridge Obesity Underdeveloped supraorbital ridges Deeply set eye Thin vermilion border Short foot Broad nasal tip Delayed myelination Short metacarpal Short palpebral fissure Laryngomalacia Limb undergrowth Delayed ability to walk Pseudohypoparathyroidism Dental malocclusion Nystagmus Infra-orbital crease Frontal hirsutism Intellectual disability, mild Syndactyly Delayed skeletal maturation Autistic behavior Carious teeth Genu valgum Highly arched eyebrow Intestinal malrotation Spasticity Arachnodactyly Prominent scalp veins Limb joint contracture Dandy-Walker malformation Cerebral calcification Decreased fetal movement Hypsarrhythmia Lissencephaly Pterygium Akinesia Cystic hygroma Fetal akinesia sequence Hydranencephaly Multiple pterygia Cerebellar hypoplasia Severe hydrocephalus Cataract Motor delay Hypospadias Micropenis Gait ataxia Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Agenesis of corpus callosum Abnormality of metabolism/homeostasis Metaphyseal widening Inguinal hernia High forehead Underdeveloped nasal alae Decreased body weight Severe failure to thrive 11 pairs of ribs Steep acetabular roof Hypertelorism Muscular hypotonia Intellectual disability, severe Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Skeletal muscle atrophy Finger syndactyly Joint hyperflexibility Small hand Recurrent fractures Round face Preauricular skin tag Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Scrotal hypoplasia 2-3 toe syndactyly Narrow palm Relative macrocephaly Pes planus Craniosynostosis Prominent nasal bridge Bruising susceptibility High, narrow palate Mitral valve prolapse High myopia Tall stature Increased body weight Cutis laxa Lipodystrophy Proptosis Ectopia lentis Aortic aneurysm Reduced subcutaneous adipose tissue Aortic root aneurysm Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Dural ectasia Gastroesophageal reflux Prominent forehead Obstructive sleep apnea Gingival overgrowth Broad femoral neck Hepatomegaly Patent ductus arteriosus Umbilical hernia Joint laxity Macroglossia Generalized myoclonic seizures Dehydration Cardiomegaly Abnormality of the face Precocious puberty Pectus excavatum Neonatal respiratory distress Prominent occiput Shallow orbits Hypoplastic fingernail Abnormality of earlobe Abdominal wall defect Small anterior fontanelle Neonatal insulin-dependent diabetes mellitus Labial hypertrophy Abnormality of the placenta Hypertension Congenital neutropenia


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