Intrauterine growth retardation, and Craniosynostosis

Diseases related with Intrauterine growth retardation and Craniosynostosis

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Other less relevant matches:

Medium match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

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

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

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

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Cryptorchidism Low-set ears Abnormal facial shape Downslanted palpebral fissures Absent speech Intellectual disability Oligohydramnios Failure to thrive Scoliosis Coronal craniosynostosis Severe short stature Macrocephaly Frontal bossing Intellectual disability, moderate Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Microphthalmia Abnormality of the dentition Depressed nasal bridge Hypogonadism Convex nasal ridge Cognitive impairment Hypertelorism Abnormality of dental enamel Hearing impairment Hypospadias Bruising susceptibility Proptosis Hydrocephalus Muscular hypotonia Cleft palate Prominent forehead Micromelia High palate Abnormality of the skeletal system Strabismus Joint hyperflexibility Spasticity Bilateral sensorineural hearing impairment Seizures Mild intrauterine growth retardation Cerebellar hypoplasia Motor delay Nystagmus Small for gestational age Sloping forehead Cortical gyral simplification Mild short stature Dilatation Vertebral compression fractures Facial asymmetry Shallow orbits Gliosis Delayed myelination Multiple suture craniosynostosis Waddling gait Severe hydrops fetalis Thick lower lip vermilion Communicating hydrocephalus Myopia Pointed chin Sparse eyebrow Abnormality of the cerebral white matter Esophageal atresia Periorbital fullness Pectus excavatum Lacrimal duct stenosis Hypertension Long fingers Abnormality of the ribs Broad forehead Delayed speech and language development Cystic hygroma Oligodactyly Absent radius Short tibia Humeroradial synostosis Forearm undergrowth Aplasia of the ulna Ptosis Feeding difficulties Tremor Crumpled long bones Ventriculomegaly Behavioral abnormality Dystonia Malar flattening Posteriorly rotated ears Hypothyroidism Anxiety Joint laxity Abnormality of the pinna Retrognathia Gastroesophageal reflux Turricephaly Pes planus Kyphosis Abnormality of the voice Increased susceptibility to fractures Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Generalized hypotonia Brachydactyly Edema Midface retrusion Progeroid facial appearance Osteopenia Wormian bones Skeletal dysplasia Delayed eruption of teeth Hydrops fetalis Recurrent fractures Bowing of the long bones Microdontia Abnormality of the metaphysis Abnormal form of the vertebral bodies Entropion Abnormality of the hand Prominent nasal bridge Pathologic fracture Arthrogryposis multiplex congenita Arachnodactyly Blue sclerae Central hypotonia High, narrow palate Premature birth Mitral valve prolapse High myopia Tall stature Hyperthyroidism Increased body weight Narrow nose Cutis laxa Relative macrocephaly Lipodystrophy Ectopia lentis Aortic aneurysm Reduced subcutaneous adipose tissue Aortic root aneurysm Scaphocephaly Severe intrauterine growth retardation High pitched voice Absent thumb Growth hormone deficiency Aplasia/Hypoplasia of the corpus callosum Glaucoma Underdeveloped nasal alae Fine hair Encephalocele Scrotal hypoplasia Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Clinodactyly of the 5th finger Hip dysplasia Brachycephaly Sparse scalp hair Narrow face Sandal gap Reduced number of teeth Cachexia Cone-shaped epiphysis Prematurely aged appearance Mild global developmental delay Abnormality of earlobe Absent earlobe Telecanthus Upslanted palpebral fissure Dysarthria Tiger tail banding Pes cavus Dry skin Ichthyosis Microcornea Esotropia Broad-based gait Coxa valga Brittle hair Slow-growing hair Long-tract signs Cardiomyopathy Alopecia Pneumonia Small hand Short foot Round face Prominent nose Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Anteverted nares Intellectual disability, mild Flexion contracture Wide nasal bridge Short palpebral fissure Primary adrenal insufficiency Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Adrenal hypoplasia Respiratory tract infection Metaphyseal cupping Congenital adrenal hypoplasia Talipes equinovarus Short neck Respiratory failure Narrow mouth Narrow chest Talipes Wide nose Limb undergrowth Muscular dystrophy Postnatal growth retardation Intellectual disability, severe Unilateral renal agenesis Cerebellar atrophy EEG abnormality Abnormal pyramidal sign Poor speech Polymicrogyria Tetraparesis Pachygyria Heterotopia Spastic tetraparesis Lissencephaly Multiple joint contractures Hydronephrosis Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Abnormality of the spinal cord Gray matter heterotopias Short corpus callosum Sensorineural hearing impairment Short nose Micropenis Orbital craniosynostosis


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