Intrauterine growth retardation, and Recurrent fractures

Diseases related with Intrauterine growth retardation and Recurrent fractures

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Recurrent fractures 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 AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


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

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D


Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

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Other less relevant matches:

Medium match COLE-CARPENTER 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

Medium match STÜVE-WIEDEMANN 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

Medium match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

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 COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Medium match FETAL AKINESIA DEFORMATION SEQUENCE


The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Medium match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Recurrent fractures

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Bowing of the long bones Low-set ears Flexion contracture Small for gestational age Osteoporosis Hydrocephalus Failure to thrive Micrognathia High palate Downslanted palpebral fissures Short neck Cerebellar hypoplasia Pulmonary hypoplasia Muscular hypotonia Seizures Generalized hypotonia Epicanthus Prominent forehead Decreased fetal movement Cleft palate Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Disproportionate short-limb short stature Telecanthus Abnormality of the dentition Posteriorly rotated ears Talipes equinovarus Micropenis Kyphosis Edema Polyhydramnios Spasticity Macrocephaly Brachydactyly Motor delay Depressed nasal bridge Respiratory insufficiency Wormian bones Increased susceptibility to fractures Fractures of the long bones Recurrent respiratory infections Pathologic fracture Limb undergrowth Flared metaphysis Severe short stature Arthrogryposis multiplex congenita Sparse hair Ascites Decreased skull ossification Adducted thumb Craniosynostosis Thoracic hypoplasia Hyperhidrosis Proptosis Abnormality of the metaphysis Redundant skin Abnormality of the voice Growth abnormality Ventriculomegaly Frontal bossing Abnormal facial shape Cerebral calcification High pitched voice Ataxia Brachycephaly Nail dysplasia Anemia Joint hyperflexibility Cirrhosis Nail dystrophy Thrombocytopenia Wide nasal bridge Midface retrusion Oligohydramnios Bone marrow hypocellularity Thin ribs Oral leukoplakia Hypospadias Blue sclerae Short nose Hydrops fetalis Hypoplasia of the maxilla Hypokinesia Slender long bone Camptodactyly of finger Anteverted nares Genu valgum Postnatal growth retardation Micromelia Multiple joint contractures Short palpebral fissure Coarctation of aorta Anencephaly Abnormality of pelvic girdle bone morphology Fatigable weakness Dandy-Walker malformation Absent septum pellucidum Pterygium Cystic hygroma Rocker bottom foot Akinesia Generalized amyotrophy Congenital contracture Spastic hemiparesis Premature birth Telangiectasia Abnormality of the vasculature Short femoral neck Portal hypertension Hemiplegia Leukoencephalopathy Leukodystrophy Thin skin Calcinosis Hemiparesis Abnormality of extrapyramidal motor function Febrile seizures Gastrointestinal hemorrhage Abnormality of movement Abnormality of the cerebral white matter Abnormal pyramidal sign Hematochezia Esophageal varix High, narrow palate Ptosis Blepharophimosis Camptodactyly Narrow mouth Polydactyly Long philtrum Skeletal muscle atrophy Peripheral neuropathy Cryptorchidism Morphological abnormality of the pyramidal tract Decreased pulmonary function Adrenal hypoplasia Exudative retinopathy Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Abnormality of abdomen morphology Malabsorption Fetal akinesia sequence Aseptic necrosis Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Telangiectasia of the skin Abnormality of the testis Aplasia/Hypoplasia of the skin Skin vesicle Macule Neurofibromas Hypermelanotic macule Abnormality of coagulation Premature graying of hair Pulmonary fibrosis White hair Aplastic anemia Tracheoesophageal fistula Porokeratosis Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Aplastic/hypoplastic toenail Ridged nail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Epiphora Myelodysplasia Depressed nasal tip Small placenta Splenomegaly Hepatomegaly Cataract Neoplasm Hearing impairment Intestinal hypoplasia Absent palmar crease Short umbilical cord Alopecia Elbow ankylosis Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Hydranencephaly Cavum septum pellucidum Ulnar deviation of the hand Overlapping fingers Excessive daytime somnolence Immunodeficiency Diabetes mellitus Dermal atrophy Pancytopenia Hypopigmented skin patches Neoplasm of the skin Abnormal intestine morphology Abnormality of the fingernails Lymphopenia Skin ulcer Hepatic fibrosis Hyperpigmentation of the skin Specific learning disability Hyperkeratosis Abnormal blistering of the skin Lymphoma Hypodontia Palmoplantar keratoderma Hepatic failure Abnormality of skin pigmentation Carious teeth Leukemia Retinopathy Large fleshy ears Abnormality of the liver Abnormality of eye movement Weak cry Oral-pharyngeal dysphagia Poor head control Fasciculations Generalized muscle weakness Inability to walk Respiratory tract infection Delayed eruption of teeth Respiratory failure Hyporeflexia Cerebral atrophy Hypertonia Cerebellar atrophy Hyperreflexia Bruising susceptibility Microdontia Nystagmus Vertebral compression fractures Hypothyroidism Respiratory distress Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Communicating hydrocephalus Abnormality of the ribs Coronal craniosynostosis Shallow orbits Turricephaly Central hypotonia Hyperthyroidism Abnormality of dental enamel Abnormal form of the vertebral bodies Feeding difficulties Abnormal glycosylation Abnormality of the eye Round face Abnormality of the skeletal system Intellectual disability Cat cry Abnormality of bone mineral density Microretrognathia Preauricular skin tag Small hand Agenesis of corpus callosum Severe global developmental delay Finger syndactyly Low-set, posteriorly rotated ears Inguinal hernia Abnormality of cardiovascular system morphology Intellectual disability, severe Malar flattening Mandibular prognathia Narrow nasal ridge Hypotelorism Colpocephaly Prominent superficial veins Premature skin wrinkling Cutis laxa Congenital hip dislocation Large fontanelles Triangular face Gastroesophageal reflux Bulbous nose Joint hypermobility Hip dislocation Broad forehead Protruding ear Joint laxity Deeply set eye Apnea Feeding difficulties in infancy Mental deterioration Polymicrogyria Hyperostosis Hypocalcemia Cardiac arrest Progressive microcephaly Ambiguous genitalia Abdominal distention Short philtrum Severe intrauterine growth retardation Coarse facial features Pneumonia Clinodactyly Microphthalmia Decreased fibular diameter Fractured radius Aniridia Radial bowing Beaded ribs Strabismus Dystonia Blindness Tremor Optic atrophy Dysarthria Hypertension Hypoplastic spleen Asplenia Overtubulated long bones Thin clavicles Aplasia/hypoplasia of the extremities Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Short hallux Multiple rib fractures Multiple prenatal fractures Paresthesia Abnormality of vision Lacrimation abnormality Abnormal cortical bone morphology Trismus Episodic fever Impaired pain sensation Metaphyseal widening Sacral dimple Ectopic thyroid Knee flexion contracture Abnormal autonomic nervous system physiology Elbow flexion contracture Hypohidrosis Limitation of joint mobility Asthma Thickened cortex of long bones Decreased corneal reflex Unilateral cleft lip Flat face Short femur Single umbilical artery Pleural effusion Short ribs Cardiomegaly Webbed neck Platyspondyly Flexion contracture of finger Cleft lip Hypertrophic cardiomyopathy Hydronephrosis Cardiomyopathy Ventricular septal defect Absent patellar reflexes Smooth tongue Absent lacrimal punctum



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