Intrauterine growth retardation, and Joint hypermobility

Diseases related with Intrauterine growth retardation and Joint hypermobility

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

Top matches:

Medium 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

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

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Other less relevant matches:

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

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

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

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Joint hypermobility

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Failure to thrive Scoliosis Malar flattening Muscular hypotonia Gastroesophageal reflux Micrognathia Hypertelorism Global developmental delay Anteverted nares Abnormal facial shape Abnormality of the skeletal system Joint hyperflexibility Hydrocephalus Midface retrusion Macrocephaly Cutis laxa Generalized hypotonia Severe short stature Seizures Pes planus Postnatal growth retardation Hip dislocation Narrow mouth Feeding difficulties Bowing of the long bones Long philtrum High pitched voice Recurrent fractures Craniosynostosis Delayed skeletal maturation High palate Epicanthus

Rare Symptoms - Less than 30% cases

Abnormality of the voice Triangular face Large fontanelles Congenital hip dislocation Strabismus Wide nasal bridge Blue sclerae Abnormal form of the vertebral bodies Abnormality of the metaphysis Round face Edema Wormian bones Redundant skin Agenesis of corpus callosum Short neck Osteopenia Broad forehead Flat face Prominent forehead Ventriculomegaly Depressed nasal bridge Pectus excavatum Mandibular prognathia Hyperlordosis Inguinal hernia Growth abnormality Lipodystrophy Abnormality of the ribs Proptosis High myopia Bruising susceptibility Severe intrauterine growth retardation Clinodactyly of the 5th finger Talipes equinovarus Abnormality of dental enamel Abnormality of the pinna Camptodactyly Dolichocephaly Low-set ears Myopia Brachydactyly Kyphosis Slender long bone Coronal craniosynostosis Narrow nose Aortic root aneurysm Shallow orbits Vertebral compression fractures Multiple suture craniosynostosis Communicating hydrocephalus Scaphocephaly Severe hydrops fetalis Central hypotonia Turricephaly Pathologic fracture Progeroid facial appearance Childhood onset short-limb short stature Abnormality of the ilium Entropion Hyperthyroidism Hyperextensibility of the finger joints Microdontia Pes valgus Increased susceptibility to fractures Dural ectasia Narrow palm Hydrops fetalis Prominent scalp veins Skeletal dysplasia Delayed eruption of teeth Crumpled long bones Limited elbow extension Orbital craniosynostosis Obstructive sleep apnea Neurological speech impairment Narrow chest Micromelia Short palm Sudden cardiac death Dental malocclusion Limb undergrowth Abnormality of the elbow Lumbar hyperlordosis Dental crowding Spinal canal stenosis Apnea Disproportionate short stature Rhizomelia Clonus Acanthosis nigricans Disproportionate short-limb short stature Short long bone Genu varum Abnormality of pelvic girdle bone morphology Elbow dislocation Chronic otitis media Flared metaphysis Joint stiffness Conductive hearing impairment Motor delay Pachygyria Short nose Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Hernia Long thorax Mesomelia Feeding difficulties in infancy Carious teeth Confusion Polymicrogyria Dandy-Walker malformation Wide anterior fontanel Hyperhidrosis Coarse hair Prominent supraorbital ridges Brittle hair Oxycephaly Reduced subcutaneous adipose tissue Abnormal isoelectric focusing of serum transferrin Hyperreflexia Dysarthria Obesity Diaphyseal thickening Large forehead Neonatal short-limb short stature Joint laxity Aortic aneurysm Patellar aplasia Microtia Smooth philtrum Underdeveloped nasal alae Clitoral hypertrophy Emphysema Tracheomalacia Hypoplastic labia majora Labial hypoplasia Breast hypoplasia Abnormality of earlobe Aplasia/Hypoplasia of the patella Bronchomalacia Birth length less than 3rd percentile Cryptorchidism Ptosis Delayed speech and language development Hypoplasia of the corpus callosum Wide mouth Blepharophimosis Absent earlobe Mild global developmental delay Abnormality of the cerebral white matter Cat cry Intellectual disability, severe Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Finger syndactyly Severe global developmental delay Small hand Preauricular skin tag Microretrognathia Abnormality of bone mineral density Cognitive impairment Prematurely aged appearance Glaucoma Hip dysplasia Convex nasal ridge Sparse scalp hair Narrow face Sandal gap Reduced number of teeth Cachexia Cone-shaped epiphysis Short philtrum Downturned corners of mouth Ectopia lentis Retrognathia Hypotelorism Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Hypertension Dilatation Prominent nasal bridge Bulbous nose Arthrogryposis multiplex congenita Arachnodactyly High, narrow palate Premature birth Mitral valve prolapse Oligohydramnios Tall stature Increased body weight Relative macrocephaly Hypoplasia of the maxilla Protruding ear Bilateral ptosis Short ribs Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Hypospadias Small for gestational age Thick eyebrow Decreased testicular size Pointed chin Deeply set eye Coxa vara Scapular winging Spina bifida occulta Short thorax Short 5th finger Hypoplastic pelvis Increased vertebral height Osteoporosis Brachycephaly Acromelia


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