Possible Causes for postnatal growth retardation Mucopolysaccharidosis Accumulation of DS in connective tissue causes growth failure, resulting in short stature. [ncbi.nlm.nih.gov] Manifestations of abnormal cell function include syndromic intellectual disability, growth failure, and skeletal dysplasia. [emedicine.medscape.com] failure, and organomegaly Laboratory findings such as excretion of urinary GAG fragments and leukocyte inclusion bodies Radiographic abnormalities, eg, dysostosis multiplex [emedicine.medscape.com] Coats Plus Syndrome We recently described 9 cases highlighting the core clinical features of this condition which are: pre- and postnatal growth retardation, bilateral retinal telangiectasia [doi.org] We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene. [abstracts.eurospe.org] failure. [research.manchester.ac.uk] Dubowitz Syndrome Dubowitz syndrome is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, microcephaly, moderate mental retardation, typical [ncbi.nlm.nih.gov] The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, [ncbi.nlm.nih.gov] Abstract We report the psychological status of ten people with the Dubowitz syndrome, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation [ncbi.nlm.nih.gov] Sanjad-Sakati Syndrome It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. [ncbi.nlm.nih.gov] Sanjad Congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies. [whonamedit.com] It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, dysmorphic features, as well as mild to severe mental retardation. [ingentaconnect.com] CHARGE Syndrome However, postnatal growth was retarded during infancy and childhood, and the increase in BMI-SDS did not correlate with growth. 2015 Foundation Acta Paediatrica. [ncbi.nlm.nih.gov] failure may be a primary feature of CHARGE syndrome of unknown etiology, 21 or it may be caused by suboptimal nutritional intake secondary to feeding difficulties or, in [nursingcenter.com] Oliveira, Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor, Growth Hormone & IGF Research, (2017). [doi.org] Warburg Micro Syndrome 3 growth retardation, cataract, microcornea, atonic pupils, optic atrophy, profound mental retardation, hypotonic spastic diplegia, polymicrogyria, hypoplasia of the corpus [bio2rdf.org] growth retardation ; Postnatal microcephaly ; Scrotal hypoplasia ; Seizures ; Shallow anterior chamber ; Short nose ; Spastic tetraplegia ; Ventriculomegaly Associated Genes [mousephenotype.org] Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract [tandfonline.com] Glycogen Storage Disease Type 6 Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen. [liverfoundation.org] The child with myopathy and growth failure should receive a high protein diet. [clinicaladvisor.com] Growth failure is common with both height and weight percentiles below average. [doi.org] Cockayne Syndrome They exhibit intrauterine growth retardation, poor postnatal growth, severe and more rapidly progressive neurological impairment. [ijpd.in] In its classical form (Cockayne syndrome type I or type A) it is characterized by loss of adipose tissue and severe postnatal growth retardation, starting in the first year [scielo.br] Our patient had intrauterine growth retardation, a little postnatal neurologic development, a severe clinical form of Cockayne syndrome. [latunisiemedicale.com] Rubinstein-Taybi Syndrome The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation [ncbi.nlm.nih.gov] Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies [ncbi.nlm.nih.gov] RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. [ncbi.nlm.nih.gov] Donohue Syndrome DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features [ncbi.nlm.nih.gov] Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic [ncbi.nlm.nih.gov] growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every [ncbi.nlm.nih.gov] Malpuech Syndrome Similarly, the fourrelated patients reported by Al Gazali et al. [1994] withprenatal and postnatal growth retardation, anterior segmentdefects of the eye have distinctive [documents.tips] Similarly, the four related patients reported by Al Gazali et al. [1994] with prenatal and postnatal growth retardation, anterior segment defects of the eye have distinctive [onlinelibrary.wiley.com] Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature; [Weight]; Low birth weight; [Other]; Postnatal growth retardation HEAD AND NECK: [Head]; Microcephaly [findzebra.com] Oculopalatoskeletal Syndrome […] abnormality Postnatal growth retardation IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information [ncbi.nlm.nih.gov] growth retardation, Growth delay, Glaucoma, Short 5th finger, Short foot, Underdeveloped supraorbital ridges, Hydronephrosis, Highly arched eyebrow, Hypertelorism, Radioulnar [fdna.health] failure, lip/palate cleft(s), and urogenital anomalies. [genome.jp] Familial Short Stature IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation. [ncbi.nlm.nih.gov] CASE/METHOD: A young male presented with postnatal growth retardation (-4.0 height SDS). [ncbi.nlm.nih.gov] IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families. [ncbi.nlm.nih.gov] Acrocallosal Syndrome Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. [ncbi.nlm.nih.gov] growth retardation Growth delay as children 0008897 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Pulmonary valve defects 0005148 Rectovaginal [rarediseases.info.nih.gov] failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Inguinal hernia 0000023 Preauricular skin tag 0000384 Prominent occiput Prominent back of the skull [rarediseases.info.nih.gov] Chromosome 19q13.11 Deletion Syndrome growth retardation Growth delay as children 0008897 Ptosis Drooping upper eyelid 0000508 Recurrent infections Frequent infections Frequent, severe infections Increased frequency [rarediseases.info.nih.gov] There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental [link.springer.com] Abstract Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital [nature.com] Cerebro-Costo-Mandibular Syndrome Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. [ncbi.nlm.nih.gov] Postnatal growth retardation and microcephaly are common findings ( 4 ). [ncbi.nlm.nih.gov] There are also palatal defects, glossoptosis, prenatal and postnatal growth deficiencies, and mental retardation, the last perhaps because of neonatal respiratory distress [medical-dictionary.thefreedictionary.com] Dyggve-Melchior-Clausen Syndrome growth retardation Sloping forehead Spinal canal stenosis Occasionally present symptoms in 5-29% of the cases: Attention deficit hyperactivity disorder Autism Shoulder dislocation [dovemed.com] growth retardation Growth delay as children 0008897 Scoliosis 0002650 Short neck Decreased length of neck 0000470 Sloping forehead Inclined forehead Receding forehead [ more [rarediseases.info.nih.gov] The clinical history begins at two years when after a normal postnatal development, parents noticed delay in growth and deformity in both knees but there was no mental retardation [omicsonline.org] IMAGE Syndrome growth retardation Growth delay as children 0008897 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Short nose Decreased length of nose Shortened [rarediseases.info.nih.gov] growth retardation with normal head circumference. 3-M syndrome is characterized by severe pre- and postnatal growth retardation (final height 5-6 SD below the mean), distinctive [ncbi.nlm.nih.gov] For example the 3-M syndrome is characterized [ 11 - 14 ] by prenatal- and postnatal growth retardation, peculiar facial features (relatively large head, frontal bossing, [omicsonline.org] Genee-Wiedemann Syndrome growth retardation ; Pyloric stenosis ; Radioulnar synostosis ; Short thumb ; Supernumerary nipple ; Supernumerary vertebrae ; Syndactyly Associated Genes DHODH Mouse Orthologs [mousephenotype.org] failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micropenis Short penis Small penis [ more ] [rarediseases.info.nih.gov] growth retardation Camptodactyly of finger Micropenis Hypoplasia of the corpus callosum Edema Milia Enlarged cochlear aqueduct Abnormality of the kidney Abnormal lacrimal [mendelian.co] Branchio-Oculo-Facial Syndrome Abstract A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are [doi.org] Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging and unusual facial appearance: a new syndrome with dominant [doi.org] Lee WK, Root AW, Fenske N: Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: [accessanesthesiology.mhmedical.com] Russell-Silver Syndrome All 11 individuals had intrauterine and postnatal growth retardation. In addition, most showed mandibular retrognathia and relative macrocephaly. [ncbi.nlm.nih.gov] Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation. [ncbi.nlm.nih.gov] CONTEXT: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth [ncbi.nlm.nih.gov] Kabuki Syndrome It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. [ncbi.nlm.nih.gov] There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies [ncbi.nlm.nih.gov] Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation [ncbi.nlm.nih.gov] Short Stature due to Endocrine Disorder retardation Severe prenatal growth deficiency 0008846 Severe postnatal growth retardation Marked growth retardation Severe growth delay in children Severe postnatal growth [rarediseases.info.nih.gov] Disease definition Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. [orpha.net] A case of partial IGF-I deficiency has also been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild [rarediseases.info.nih.gov] Freeman-Sheldon Syndrome The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia. Fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar[…] [ncbi.nlm.nih.gov] Aicardi's Syndrome Three children with flexion spasms and an ophthalmologic picture characterised by choroidal lacunae are described. Aicardi's syndrome was diagnosed in two cases. A diagnosis of Aicardi's syndrome should include CT scan and/or pneumoencephalographic findings of partial or total agenesis of the corpus callosum and/or[…] [ncbi.nlm.nih.gov] Microcephalic Osteodysplastic Primordial Dwarfism Type II Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly [ncbi.nlm.nih.gov] The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. [ncbi.nlm.nih.gov] Abstract Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly [unboundmedicine.com] Mucopolysaccharidosis Type 7 Authors *Paediatric Research Unit, Guy's Hospital Medical School, London S.E. I. Search for more papers by this author M. F. Dean, †The Mathilda and Terence Kennedy Institute of Rheumatology, London W.6. Search for more papers by this author Helen Muir† †The Mathilda and Terence Kennedy Institute of Rheumatology,[…] [onlinelibrary.wiley.com] Seckel Syndrome A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel [ncbi.nlm.nih.gov] The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak-like triangular nose, and mental retardation [ncbi.nlm.nih.gov] growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. [ncbi.nlm.nih.gov] Laron Syndrome with Immunodeficiency retardation and postnatal catch-up growth failure. [emedicine.medscape.com] Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature, moderate; [Weight]; Birthweight at or below 3rd centile; [Other]; Growth retardation, postnatal [findzebra.com] Phenotypically he showed intrauterine growth retardation, postnatal growth failure, microcephaly, mental retardation, sensorineural deafness and multiple dysmorphic features [karger.com] Cerebro-Oculo-Facio-Skeletal Syndrome Type 1 growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcification in basal ganglia and white matter, progressive joint contractures [medlink.com] They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties [ncbi.nlm.nih.gov] growth retardation, severe psychomotor retardation, microcephaly with cerebral and cerebellar degeneration and calcification in basal ganglia and white matter, arthrogryposis [medlink.com]
