Intrauterine growth retardation, and Blue sclerae

Diseases related with Intrauterine growth retardation and Blue sclerae

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

Top matches:

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Other less relevant matches:

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Blue sclerae

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Severe short stature Microcephaly Scoliosis Failure to thrive Deeply set eye Midface retrusion Seizures Delayed skeletal maturation Abnormal facial shape High pitched voice Cutis laxa Generalized hypotonia Low-set ears High palate Hypoplasia of the corpus callosum Hearing impairment Flexion contracture Prominent forehead Cryptorchidism Delayed speech and language development Small for gestational age Protruding ear Delayed eruption of teeth Spasticity Joint hyperflexibility Triangular face Hypotelorism Pectus excavatum Bowing of the long bones Redundant skin Macrocephaly Depressed nasal bridge Kyphosis Narrow mouth Osteoporosis Muscular hypotonia Posteriorly rotated ears Strabismus Postnatal growth retardation Brachydactyly Epicanthus Sparse hair Thin vermilion border Hip dislocation Narrow nasal ridge Downslanted palpebral fissures Frontal bossing Excessive wrinkled skin Hyperextensible skin Obesity Hydrocephalus Severe intrauterine growth retardation Malar flattening Large fontanelles Agenesis of corpus callosum Fine hair

Rare Symptoms - Less than 30% cases

Motor delay Cognitive impairment Diabetes mellitus Delayed puberty Pneumonia Osteoarthritis Tremor Truncal obesity High forehead Short long bone Reduced subcutaneous adipose tissue Severe failure to thrive Wide anterior fontanel Hypothyroidism Abnormal heart morphology Talipes equinovarus Respiratory insufficiency Cutis marmorata Wide intermamillary distance Short foot Short distal phalanx of finger Muscular hypotonia of the trunk Cerebral calcification Abnormality of skin pigmentation Visual loss Macrotia Abnormality of cardiovascular system morphology Dilatation Myopia Visual impairment Maternal diabetes Ventricular septal defect Short finger Full cheeks Kyphoscoliosis Scarring Prematurely aged appearance Hypertonia Thin skin Ventriculomegaly Abnormality of the ribs Abnormal form of the vertebral bodies Dermal translucency Abnormality of the metaphysis Congenital hip dislocation Edema Athetosis Narrow palpebral fissure Recurrent fractures Elbow flexion contracture Wormian bones Abnormality of the skeletal system Brachycephaly Microdontia Bulbous nose Inguinal hernia Underdeveloped nasal alae Joint hypermobility Blepharophimosis Bruising susceptibility Congenital glaucoma Hernia Prominent superficial veins Premature skin wrinkling Mandibular prognathia Skeletal dysplasia Joint laxity Osteopenia Joint dislocation Limb undergrowth Hoarse voice Increased bone mineral density Short phalanx of finger Abnormality of epiphysis morphology Interphalangeal joint contracture of finger Proximal placement of thumb Abnormality of the outer ear Spinal cord compression Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Abnormality of the clavicle Abnormality of the metacarpal bones Overweight Hip contracture Ulnar deviation of finger Overfolded helix Elbow dislocation Disproportionate short-limb short stature Hip dysplasia Joint stiffness Micromelia Retinal detachment Cerebral palsy Low anterior hairline Lymphedema Small nail Oligohydramnios Gliosis Single transverse palmar crease Polymicrogyria Aplasia cutis congenita Congenital cataract Polar cataract Abnormality of the nervous system Cerebellar hypoplasia Alopecia Hypoargininemia Depressivity Dermal atrophy Corpus callosum atrophy Talipes Corneal arcus Abnormality of the foot Arthrogryposis multiplex congenita Camptodactyly of finger Flattened epiphysis Low-set, posteriorly rotated ears Arthralgia Recurrent respiratory infections Pain Periventricular leukomalacia Cleft palate Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Visceral angiomatosis Umbilical hernia Neonatal short-limb short stature Delayed cranial suture closure Broad finger Esodeviation Mild short stature Perimembranous ventricular septal defect Abnormality of the rib cage Small face Multiple cafe-au-lait spots Agitation Prominent scalp veins Radial deviation of finger Lipodystrophy Cerebral atrophy Patent foramen ovale Pterygium Acanthosis nigricans Sandal gap Rieger anomaly Hypoplastic facial bones Finger clinodactyly Skeletal muscle atrophy Patent ductus arteriosus Absent speech Vomiting Atrial septal defect Anteverted nares Difficulty walking Corneal opacity Distal amyotrophy Burkitt lymphoma Decreased fetal movement Hyperreflexia Cataract Increased serum insulin-like growth factor 1 Opacification of the corneal stroma Hyperammonemia Adducted thumb Poor suck Accelerated skeletal maturation Cafe-au-lait spot Wide cranial sutures Costal cartilage calcification Upslanted palpebral fissure Clinodactyly Long philtrum Overlapping fingers Wide nasal bridge Hypertrophic auricular cartilage Cystic lesions of the pinnae Laryngotracheal stenosis Thin upper lip vermilion Glabellar hemangioma Hypoplastic cervical vertebrae Respiratory failure Cervical kyphosis Ulnar deviation of the wrist Calcaneovalgus deformity Spinal deformities Retrognathia Anxiety Decreased body weight Thin ribs Sparse scalp hair Epidermal acanthosis Type II diabetes mellitus Multiple joint contractures Webbed neck Neurodevelopmental delay Lymphoma Subcapsular cataract Synophrys Broad nasal tip Progeroid facial appearance Highly arched eyebrow Everted lower lip vermilion Small hand Inability to walk Short palm Smooth philtrum Hitchhiker thumb Acne Microphthalmia Abnormality of the elbow Sensorineural hearing impairment Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Immune dysregulation Concave nasal ridge Underdeveloped supraorbital ridges Intellectual disability, severe Proportionate short stature External genital hypoplasia Keratitis Reduced number of teeth Hypercholesterolemia Increased body weight Lymphopenia Dysarthria Gait ataxia Hypohidrosis Oligodontia Down-sloping shoulders Ketoacidosis Brisk reflexes Polyuria Hyperglycemia Hypoplasia of the brainstem Polydipsia Type I diabetes mellitus Hyperlordosis Truncal ataxia Abnormal vertebral morphology Renal hypoplasia Round face Delayed myelination Downturned corners of mouth Dysmetria Short toe Chronic diarrhea Kinetic tremor Abnormal glycosylation Pathologic fracture Abnormality of the voice Increased susceptibility to fractures Abnormality of dental enamel Hydrops fetalis Craniosynostosis Proptosis Colpocephaly Central hypotonia Growth abnormality Hypoplasia of the maxilla Broad forehead Gastroesophageal reflux Pyloric stenosis Pes planus Glaucoma Hyperthyroidism Turricephaly Abnormal lung morphology Diarrhea Depressed nasal ridge Hypoplasia of penis Eczema Progressive visual loss Growth hormone deficiency Hypoglycemia Recurrent infections Respiratory distress Shallow orbits Neoplasm Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Vertebral compression fractures Communicating hydrocephalus Coronal craniosynostosis Recurrent hypoglycemia Increased vertebral height Syndactyly Arteriosclerosis Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Arterial stenosis Renovascular hypertension Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Metamorphopsia Abnormality of connective tissue Abnormality of the cerebral vasculature Peau d'orange Optic atrophy Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peripapillary chorioretinal atrophy Civatte bodies Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Peripheral arterial stenosis Mitral stenosis Hypertension Papule Mitral valve prolapse Abnormality of the cardiovascular system Abnormality of the skin Gastrointestinal hemorrhage Sudden cardiac death Postural instability Pruritus Stroke Mitral regurgitation Skin rash Retinopathy Reduced visual acuity Renal insufficiency Congestive heart failure Blindness Cardiomyopathy Myocardial infarction Subcutaneous nodule Drusen Abnormal retinal morphology Thickened nuchal skin fold Abnormality of the mouth Severe vision loss Striae distensae Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Hypermelanotic macule Nephrocalcinosis Coronary artery atherosclerosis Hemiplegia/hemiparesis Tricuspid regurgitation Abnormality of the thorax Intracranial hemorrhage Ischemic stroke Atherosclerosis Macular degeneration Prominent superficial blood vessels


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