Intrauterine growth retardation, and Tall stature

Diseases related with Intrauterine growth retardation and Tall stature

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

Top matches:

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

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

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Other less relevant matches:

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Medium match COHEN SYNDROME; COH1

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Tall stature

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Hernia

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Seizures Cleft palate Joint laxity Cryptorchidism Hearing impairment Neoplasm Strabismus Downslanted palpebral fissures Ventricular septal defect Overgrowth Abnormal facial shape Nystagmus Microcephaly Agenesis of corpus callosum Frontal bossing Short stature Arachnodactyly Abnormal heart morphology Ptosis Increased body weight Low-set ears Short philtrum Edema High palate Atrial septal defect Dilatation Hydrocephalus Depressed nasal bridge Polydactyly Intellectual disability, moderate Hypothyroidism Hydronephrosis Nephroblastoma Growth hormone deficiency Nevus Patent ductus arteriosus Thin upper lip vermilion Abnormality of cardiovascular system morphology Microphthalmia Behavioral abnormality High forehead Iris coloboma Hypodontia Narrow nasal bridge Joint hypermobility Thick vermilion border Cardiomyopathy Wide nasal bridge Hemangioma Finger syndactyly Astigmatism Postnatal growth retardation Umbilical hernia Disproportionate tall stature Optic atrophy Kyphosis Retinopathy Decreased fetal movement Congenital diaphragmatic hernia Respiratory distress Abnormality of digit Wide mouth Brachydactyly Abnormality of the skeletal system Feeding difficulties Prominent nasal bridge Gastroesophageal reflux Proptosis Pectus excavatum Myopia Diabetes mellitus Small for gestational age Cognitive impairment

Rare Symptoms - Less than 30% cases

Low anterior hairline Abnormality of the larynx Postaxial hand polydactyly Telangiectasia Horseshoe kidney Multicystic kidney dysplasia Abnormality of dental morphology Abnormality of the skin Preauricular skin tag Syndactyly Long eyelashes Renal hypoplasia Cutis marmorata Epicanthus Arnold-Chiari malformation Retinal detachment Vesicoureteral reflux Obesity Reduced number of teeth Hiatus hernia Recurrent skin infections Short metacarpal Abnormality of skin pigmentation Reduced visual acuity Stroke Short metatarsal Blindness Toe syndactyly Smooth philtrum Precocious puberty Intestinal malrotation Postaxial polydactyly Spina bifida occulta Large for gestational age Nevus flammeus Aplasia/Hypoplasia of the skin Recurrent infections Split hand Sacral dimple Aplasia/Hypoplasia of the lungs Pain Inguinal hernia Clinodactyly Coarse facial features Hypoglycemia Feeding difficulties in infancy Visual impairment Cataract Hepatoblastoma Diastasis recti Dandy-Walker malformation Foot polydactyly Aniridia Accelerated skeletal maturation Abdominal pain Highly arched eyebrow Telangiectasia of the skin Respiratory tract infection Hemihypertrophy Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Thick eyebrow Synophrys Hypotrichosis Severe global developmental delay Hypospadias Abnormality of the pinna Delayed skeletal maturation Recurrent respiratory infections Low-set, posteriorly rotated ears Abnormality of the kidney Abnormal cardiac septum morphology Microtia Abnormality of the foot Cleft upper lip Microglossia Omphalocele Narrow palm Scaphocephaly Cutis laxa Delayed puberty Dolichocephaly Broad forehead Abnormality of the nervous system Ectopia lentis Aortic aneurysm Hypoplasia of the maxilla Hypoplasia of the corpus callosum Ventriculomegaly Open mouth High myopia Hyperactivity Hepatomegaly Motor delay Dental crowding Intellectual disability, mild Cat cry Abnormality of the dentition Type II diabetes mellitus Severe failure to thrive Severe intrauterine growth retardation Ascites Aortic root aneurysm Abdominal distention Hypertension Aggressive behavior Neurological speech impairment Pes planus Joint hyperflexibility Prominent forehead Attention deficit hyperactivity disorder Macroglossia Retrognathia High, narrow palate Talipes equinovarus Pointed chin Pigmentary retinopathy Protruding ear Camptodactyly of finger Mitral valve prolapse Oligodontia Hand polydactyly Anophthalmia Dehydration Stridor Chorioretinal coloboma Abnormality of dental enamel Ectropion Brittle hair Hoarse voice Mild short stature Short ribs Renal hypoplasia/aplasia Abnormality of the nail Dermal atrophy Congenital hip dislocation Hyperglycemia Glucose intolerance Mixed hearing impairment Open bite Spina bifida Ectrodactyly Facial cleft Aplasia cutis congenita Oligodactyly Hypoplastic nipples Anteriorly placed anus Short clavicles Hypoplasia of the iris Vertebral fusion Supernumerary nipple Split foot Colitis Stenosis of the external auditory canal Macule Myelomeningocele Truncus arteriosus Acute hepatic failure Short finger Hypermelanotic macule Cachexia Nail dystrophy Short phalanx of finger Aplasia/Hypoplasia of the patella Prominent interphalangeal joints Severe expressive language delay Premature thelarche Facial hypertrichosis Intussusception Duodenal ulcer Ectopic posterior pituitary Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Anterior pituitary hypoplasia Abnormality of the head Patellar hypoplasia Hypoplastic fifth fingernail Rectal prolapse Aplasia of the uterus Short sternum Neoplasm of the liver Recurrent hypoglycemia Tics Enlarged cisterna magna Short 5th finger Dislocated radial head Partial agenesis of the corpus callosum Ectopic kidney Anonychia Short distal phalanx of the 5th finger Lumbosacral hirsutism Abnormality of epiphysis morphology Cough Hypoplasia of dental enamel Subcutaneous nodule Thin skin Interphalangeal joint contracture of finger Nail dysplasia Dental malocclusion Ectodermal dysplasia Facial asymmetry Pruritus Hypoplastic pelvis Papule Corneal opacity Coloboma Short distal phalanx of the 5th toe Scarring Sparse hair Erythema Camptodactyly Cleft lip Premature atrial contractions Weight loss Hyperhidrosis Alopecia Transient neonatal diabetes mellitus Hypoinsulinemia Dysphagia Duodenal atresia Bifid nose Lower limb asymmetry Radioulnar synostosis Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Abnormality of the hip bone Truncal obesity Cerebral hemorrhage Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Laryngomalacia Posterior subcapsular cataract Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Exotropia Clumsiness Lumbar hyperlordosis Narrow forehead Progressive visual loss Convex nasal ridge Peripheral visual field loss Gingivitis Aciduria Congenital neutropenia Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Granulocytopenia Vocal cord paralysis Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Otitis media Prominent nose Ulcerative colitis Absent toenail Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Clitoral hypoplasia Nonproductive cough Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Verrucae Osteopathia striata Abnormality of the pulmonary vasculature Microcornea Rod-cone dystrophy Neutropenia Tapered finger Small hand Retinal dystrophy Retinal degeneration Genu valgum Nyctalopia Paralysis Arthritis Neonatal hypotonia Kyphoscoliosis Macrotia Mandibular prognathia Cerebellar hypoplasia Abnormal adipose tissue morphology Clinodactyly of the 5th finger Visual loss Thrombocytopenia Malar flattening Sensorineural hearing impairment Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Elevated alkaline phosphatase Premature birth Coxa valga Hemimegalencephaly Long nose Slender finger Ataxia Macroorchidism Abnormality of the rib cage Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Facial hemangioma Obsessive-compulsive behavior Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Emotional lability Intellectual disability, severe Arteriovenous malformation Psychosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Chronic otitis media Abnormality of the thorax Abnormality of the urinary system Long face Abnormal vertebral morphology Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Low posterior hairline Broad thumb Abnormality of the voice Downturned corners of mouth Anorexia Abnormality of movement Hallucinations Narrow face Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Osteoporosis Schizophrenia Deep philtrum Nasal speech Impaired social interactions Abnormality of the lower limb Abnormality of the immune system J-shaped sella turcica Cirrhosis Deeply set eye Triangular face Arrhythmia Decreased antibody level in blood Cyanosis Epidermal acanthosis Insulin resistance Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses Absent frontal sinuses Leukemia Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Acanthosis nigricans Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Reduced tendon reflexes Infertility Oral cleft Large earlobe Cortical dysplasia Varicose veins Meningioma Megalencephaly Capillary hemangioma Severe postnatal growth retardation Arnold-Chiari type I malformation Ascending tubular aorta aneurysm Syringomyelia Velopharyngeal insufficiency Multiple cafe-au-lait spots Low frustration tolerance Oppositional defiant disorder Abnormally folded helix Polymicrogyria Redundant skin Reduced bone mineral density Ischemic stroke Cutaneous syndactyly Shock Purpura Dysarthria Congestive heart failure Depressivity Severe short stature Hypogonadism Hepatosplenomegaly Abnormal heart valve morphology Abnormality of the vertebral column Generalized hirsutism Opsoclonus Pes valgus Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Posterior helix pit Hyperextensibility of the finger joints Ganglioneuroma Adrenocortical carcinoma Flank pain Prune belly Renal cortical cysts Embryonal neoplasm Dural ectasia Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Delayed speech and language development Entropion Pancreatic cysts Premature ovarian insufficiency Craniosynostosis Arthrogryposis multiplex congenita Choanal atresia Sparse scalp hair Hypertrichosis Thick lower lip vermilion Small nail Cerebellar vermis hypoplasia Bruising susceptibility Hypotelorism Eczema Tetralogy of Fallot Oligohydramnios Vomiting Hirsutism Wide nose Short distal phalanx of finger Bulbous nose Confusion Relative macrocephaly Lipodystrophy Autistic behavior Reduced subcutaneous adipose tissue Posteriorly rotated ears Narrow nose Progeroid facial appearance Abnormality of the tongue Visceromegaly Megalocornea Rib segmentation abnormalities Brachycephaly Autism Carcinoma Conductive hearing impairment Polyhydramnios Respiratory failure Myoclonus Midface retrusion Short nose Respiratory insufficiency Hypoplastic pubic rami Abnormality of the gallbladder Renal cyst Abnormal lip morphology Abnormality of the philtrum Tethered cord Aplasia cutis congenita of scalp Aplasia/Hypoplasia of the nipples Abdominal situs inversus Rib fusion Short hallux High anterior hairline Calvarial skull defect Sclerocornea Abnormality of the mouth Pulmonary hypoplasia Postural instability Hypoplasia of the thymus Broad palm Gonadoblastoma Nonimmune hydrops fetalis Ketosis Neonatal hypoglycemia Enlarged kidney Prominent scalp veins Protuberant abdomen Flexion contracture Prominent metopic ridge Congenital hypothyroidism Neuroblastoma Hamartoma Tibial bowing Cardiomegaly Abnormality of the ear Prominent occiput Large hands Hypercalciuria Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Nephrocalcinosis Nephrolithiasis Large fontanelles Recurrent urinary tract infections Slender toe


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