Intrauterine growth retardation, and Skeletal dysplasia

Diseases related with Intrauterine growth retardation and Skeletal dysplasia

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

Top matches:

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

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

Other less relevant matches:

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

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium match OSTEOCRANIOSTENOSIS

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Medium match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Medium match DIASTROPHIC DWARFISM

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Skeletal dysplasia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micromelia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Hypospadias Short nose Severe short stature Short long bone Talipes equinovarus Hypertelorism Brachydactyly Midface retrusion Cryptorchidism Cleft palate Abnormal facial shape Bowing of the long bones Global developmental delay Intellectual disability Abnormality of the metaphysis Abnormality of the skeletal system Micrognathia Macrocephaly Frontal bossing Hydrocephalus Recurrent fractures Lethal skeletal dysplasia Abnormality of dental enamel Low-set ears Delayed skeletal maturation Craniosynostosis Oligohydramnios Generalized hypotonia Mild short stature Failure to thrive Thin ribs Flexion contracture Kyphosis Osteopenia Joint hyperflexibility Anteverted nares Delayed eruption of teeth Limb undergrowth

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Malar flattening Short thorax Thoracic dysplasia Micropenis Microphthalmia Disproportionate short stature Obesity Horizontal ribs Hypocalcemia Clinodactyly of the 5th finger Abnormal heart morphology Short phalanx of finger Osteoarthritis Abnormality of cardiovascular system morphology Abnormal form of the vertebral bodies Blue sclerae Abnormality of the ribs Joint stiffness Mandibular prognathia Neonatal short-limb short stature Prominent forehead Hypoplastic iliac wing Long philtrum Camptodactyly of finger Ventricular septal defect Narrow chest Pulmonary hypoplasia High palate Hypothyroidism Hydrops fetalis Slender long bone Decreased skull ossification Disproportionate short-limb short stature Abnormality of the dentition Respiratory distress Genu valgum Short neck Asthma Short ribs Small for gestational age Hearing impairment Pneumonia Clinodactyly Joint dislocation Short philtrum Microdontia Heterotopia Postaxial hand polydactyly Situs inversus totalis Abnormality of the hair Abnormality of the kidney Ectodermal dysplasia Dandy-Walker malformation Renal agenesis Nail dysplasia Polydactyly Hypodontia Postaxial polydactyly Short distal phalanx of finger Thin vermilion border Cleft upper lip Nail dystrophy Pectus carinatum Hypoplastic pelvis Atrial septal defect Confusion Triangular face Everted lower lip vermilion Thick vermilion border Thick eyebrow Bulbous nose Joint hypermobility Dolichocephaly Thick lower lip vermilion Hip dislocation Broad forehead Protruding ear Hyperlordosis Joint laxity Pes planus Pectus excavatum Decreased testicular size Narrow face Strabismus Short 5th finger Increased vertebral height Hypoplastic pubic bone Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Abnormality of the fingernails Abnormality of the elbow Pointed chin Decreased fertility Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Spina bifida occulta Scapular winging Congenital hip dislocation Abnormality of the nail Upper limb undergrowth Renal hypoplasia/aplasia Hypoplastic cervical vertebrae Increased bone mineral density Abnormality of epiphysis morphology Interphalangeal joint contracture of finger Ulnar deviation of the wrist Cervical kyphosis Cerebral calcification Hitchhiker thumb Glabellar hemangioma Abnormality of the outer ear Laryngotracheal stenosis Costal cartilage calcification Hip dysplasia Full cheeks Talipes Abnormality of the foot Arthrogryposis multiplex congenita Hoarse voice Abnormality of the metacarpal bones Arthralgia Abnormality of the clavicle Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Spinal cord compression Spinal deformities Hyperextensible skin Overweight Hip contracture Ulnar deviation of finger Short finger Proximal placement of thumb Overfolded helix Elbow dislocation Low-set, posteriorly rotated ears Kyphoscoliosis Abnormality of pelvic girdle bone morphology Agenesis of permanent teeth Postaxial foot polydactyly Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Atrioventricular canal defect Thoracic hypoplasia Acute leukemia Hypoplastic left heart Hydroureter Dextrocardia Emphysema Hypoplastic toenails Cubitus valgus Hand polydactyly Aplasia/Hypoplasia of the lungs Abnormality of female internal genitalia Cystic lesions of the pinnae Congenital megaureter Recurrent respiratory infections Respiratory insufficiency Pain Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Capitate-hamate fusion Abnormal hair quantity Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Hypoplastic spleen Abnormal oral mucosa morphology Epispadias Dilatation Short metatarsal Overtubulated long bones Adrenal insufficiency Downslanted palpebral fissures Congenital adrenal hypoplasia Metaphyseal cupping Adrenal hypoplasia Primary adrenal insufficiency Metaphyseal dysplasia Bilateral cryptorchidism Proptosis Epiphyseal dysplasia Hypercalcemia Hypercalciuria Nephrocalcinosis Abnormality of the genital system Bilateral sensorineural hearing impairment Edema Bruising susceptibility Muscular dystrophy Shallow orbits Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Vertebral compression fractures Communicating hydrocephalus Coronal craniosynostosis Turricephaly Wormian bones Central hypotonia Hyperthyroidism Pathologic fracture High pitched voice Abnormality of the voice Increased susceptibility to fractures Growth hormone deficiency Respiratory tract infection Osteoporosis Depressed nasal ridge Distal shortening of limbs Metaphyseal cupping of metacarpals Severe platyspondyly Metaphyseal chondrodysplasia 11 pairs of ribs Rhizomelia Short foot Metaphyseal cupping of proximal phalanges Short palm Platyspondyly Wide mouth Hyperkeratosis Cerebellar hypoplasia Intellectual disability, mild Abnormality of the calcaneus Hypoplasia of the calcaneus Hydronephrosis Overlapping fingers Hypogonadism Sensorineural hearing impairment Overriding aorta Stiff neck Hypoplasia of the thymus Broad ribs Fetal akinesia sequence Cardiomegaly Thoracic scoliosis Femoral bowing Akinesia Adducted thumb Torticollis Narrow palate Omphalocele Orbital craniosynostosis Hyperhidrosis Thin clavicles Red hair Polymicrogyria Coarse facial features Motor delay Microcephaly Seizures Chronic rhinitis Fair hair Abdominal distention Blue irides Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Cone-shaped epiphysis Ascites Ambiguous genitalia Accelerated skeletal maturation Severe intrauterine growth retardation Aplasia/hypoplasia of the extremities Ankyloglossia Cloverleaf skull Short hallux Asplenia Radial bowing Aniridia Decreased fetal movement Hypokinesia Flared metaphysis Hyperostosis Redundant skin Growth abnormality Cardiac arrest Progressive microcephaly Increased intracranial pressure Type I diabetes mellitus Apnea Knee flexion contracture Trismus Episodic fever Impaired pain sensation Metaphyseal widening Abnormality of vision Sacral dimple Abnormal autonomic nervous system physiology Lacrimation abnormality Elbow flexion contracture Hypohidrosis Limitation of joint mobility Paresthesia Feeding difficulties in infancy Abnormality of the eye Abnormal cortical bone morphology Thickened cortex of long bones Eczema Hyperactivity Underdeveloped nasal alae Short metacarpal Round face Hypoplasia of the maxilla Small hand Autism Diabetes mellitus Ectopic thyroid Epicanthus Hypertension Delayed speech and language development Absent patellar reflexes Smooth tongue Flexion contracture of finger Decreased corneal reflex Hypertrophic auricular cartilage


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