Intrauterine growth retardation, and Cough

Diseases related with Intrauterine growth retardation and Cough

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

Medium match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Other less relevant matches:

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match TUBERCULOSIS

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

Related symptoms:

  • Fever
  • Fatigue
  • Weight loss
  • Cough
  • Abnormal lung morphology


SOURCES: ORPHANET MENDELIAN

More info about TUBERCULOSIS

CILIARY DYSKINESIA, PRIMARY, 12; CILD12 Is also known as ciliary dyskinesia, primary, 12, without situs inversus

Related symptoms:

  • Short stature
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 12; CILD12

CILIARY DYSKINESIA, PRIMARY, 11; CILD11 Is also known as ciliary dyskinesia, primary, 11, without situs inversus

Related symptoms:

  • Short stature
  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 11; CILD11

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory distress Fever Scoliosis Microcephaly Recurrent respiratory infections Low-set ears Ventricular septal defect Pancytopenia Abnormal lung morphology Intellectual disability Decreased body weight Patent ductus arteriosus Edema Cleft palate Seizures Respiratory tract infection Generalized hypotonia Hepatomegaly High palate Hypertension Respiratory insufficiency Motor delay Flexion contracture Strabismus Inguinal hernia Elbow flexion contracture

Rare Symptoms - Less than 30% cases

Abnormality of the skeletal system Chronic rhinitis Ataxia Cleft lip Abnormal facial shape Rhinorrhea Abnormal central microtubular pair morphology of respiratory motile cilia Productive cough Respiratory failure Cryptorchidism Otitis media Ptosis Abnormal heart morphology Clinodactyly Obesity Abnormality of cardiovascular system morphology Microphthalmia Brachydactyly Cardiomyopathy Syndactyly Rhinitis Camptodactyly Abnormality of epiphysis morphology Fatigue Dysphagia Diarrhea Congestive heart failure Vertebral fusion Short finger Splenomegaly Abdominal pain Stridor Umbilical hernia Hepatosplenomegaly Rigidity Apnea Thickened skin Nasal obstruction Corneal opacity Lymphadenopathy Increased body weight Abnormality of the skin Dyskinesia Bronchiectasis Sinusitis Exercise intolerance Ciliary dyskinesia Microtia Abnormal cardiac septum morphology Scarring Myelomeningocele Sparse hair Ectropion Hearing impairment Hypocalcemia Omphalocele Deeply set eye Neonatal respiratory distress Cognitive impairment Nasal speech Restrictive deficit on pulmonary function testing Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Spina bifida Abnormality of the ribs Abnormality of eye movement Abnormality of the dentition Kyphosis Elevated hepatic transaminase Joint laxity Cirrhosis Malar flattening Postnatal growth retardation Conductive hearing impairment Hypospadias Weight loss Hypoglycemia Osteopenia Micrognathia Orthopnea Abnormality of the larynx Portal hypertension Cholestasis Interstitial pulmonary abnormality Anteriorly placed anus Anemia Vomiting Hernia Ascites Recurrent infections Polyhydramnios Feeding difficulties Spina bifida occulta Renal hypoplasia/aplasia Oligodontia Arnold-Chiari malformation Laryngeal stridor Abnormality of dental enamel Pointed chin Recurrent skin infections Abnormality of the nail Reduced number of teeth Abnormality of the pinna Giant cell hepatitis Hypermelanotic macule Facial cleft Aplasia cutis congenita Hypoplastic nipples Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Colitis Macule Mixed hearing impairment Supernumerary nipple Dermal atrophy Spontaneous hematomas Open bite Mild short stature Anophthalmia Abnormality of dental morphology Chorioretinal coloboma Short ribs Hand polydactyly Brittle hair Short metatarsal Intestinal bleeding Ectopia lentis Hematological neoplasm Hoarse voice Abnormality of skin pigmentation Dental malocclusion Short metacarpal Reduced visual acuity Oligodactyly Ectodermal dysplasia Intestinal malrotation Broad nasal tip Hypodontia Delayed eruption of teeth Iris coloboma Cleft upper lip Polydactyly Facial asymmetry Abnormality of the foot Toe syndactyly Hypotrichosis Pruritus Nail dystrophy Hydronephrosis Papule Finger syndactyly Camptodactyly of finger Coloboma Nail dysplasia Overgrowth Short phalanx of finger EEG with temporal sharp waves Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule CSF pleocytosis Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Erythema Abnormal platelet aggregation Cardiac valve calcification Slowed horizontal saccades Thin skin Nystagmus Postaxial hand polydactyly Neoplasm Split hand Optic atrophy Hydrocephalus Renal hypoplasia Blindness Alopecia Interphalangeal joint contracture of finger Agenesis of corpus callosum Hyperhidrosis Congenital diaphragmatic hernia Ectrodactyly Abnormality of the pulmonary vasculature Short clavicles Hyporeflexia Waddling gait Generalized muscle weakness Limb muscle weakness Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Muscular dystrophy Hyperlordosis Facial palsy Proximal muscle weakness Neonatal hypotonia Pneumonia Myopathy Progressive muscle weakness Skeletal muscle atrophy Muscular hypotonia Muscle weakness Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Decrease in T cell count Severe combined immunodeficiency Recurrent otitis media Inflammatory abnormality of the skin Eczema Skin rash Ventricular hypertrophy Poor head control Recurrent sinusitis Axial muscle weakness Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Crackles Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Reduced vital capacity Respiratory arrest Abnormality of the rib cage Gowers sign Cor pulmonale Right ventricular hypertrophy Thoracolumbar scoliosis Malignant hyperthermia Hypoventilation Neck muscle weakness Hip contracture Spinal rigidity Generalized amyotrophy High pitched voice Increased variability in muscle fiber diameter Congenital muscular dystrophy Abnormal ciliary motility Situs inversus totalis Aniridia Verrucae Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Ulcerative colitis Inspiratory stridor Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Papilloma Clitoral hypoplasia Nonmotile sperm Osteopathia striata Chronic sinusitis Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abducens palsy Nonproductive cough Cleft ala nasi Absent toenail Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Subcutaneous hemorrhage Aspiration Axial dystonia Small for gestational age Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Hypoplasia of the maxilla Short palm Thick eyebrow Thin vermilion border Oral cleft Astigmatism Hypermetropia Platyspondyly Prominent nasal bridge Specific learning disability Short philtrum Blepharophimosis Joint stiffness Autistic behavior Thin upper lip vermilion Mandibular prognathia Autism Narrow mouth Hyperactivity Hypogonadism Severe short stature Amenorrhea Abnormality of the cardiovascular system Midface retrusion Radial deviation of finger Arthropathy Keratoconus Thickened calvaria Abnormal joint morphology High hypermetropia Pericardial effusion External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Skeletal muscle hypertrophy Oral-pharyngeal dysphagia Coarctation of aorta Cone-shaped epiphysis Abnormality of the voice Precocious puberty Short long bone Narrow palpebral fissure EMG abnormality Aortic valve stenosis Short toe Abnormality of the metaphysis Choanal atresia Short palpebral fissure Fine hair Constipation Behavioral abnormality Wheezing Vitamin A deficiency Atresia of the external auditory canal Cerebral calcification Webbed neck Renal cyst Narrow chest Posteriorly rotated ears Clinodactyly of the 5th finger Long philtrum Atrial septal defect Epicanthus Small scrotum Anasarca Thoracic hypoplasia Vitamin D deficiency Bile duct proliferation Rickets Hypoalbuminemia Tachypnea Decreased liver function Oligohydramnios Hepatic steatosis Abnormality of the liver Abnormality of the eye Cerebral atrophy Ectopic kidney Short humerus Cerebellar atrophy Absent soft palate Short neck Macrocephaly Cataract Sensorineural hearing impairment Hypertelorism Paradoxical respiration Rib gap Posterior rib gap Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Anomalous tracheal cartilage Absent uvula Anal stenosis Short hard palate Mandibular aplasia Hydranencephaly Porencephalic cyst Cleft soft palate 11 pairs of ribs Missing ribs Pierre-Robin sequence Meningocele Bell-shaped thorax Glossoptosis Tracheomalacia Pericarditis Submucous cleft hard palate Hemophagocytosis Cholelithiasis Abnormality of coagulation Opisthotonus Menorrhagia Athetosis Heart murmur Akinesia Clubbing Hyponatremia Abnormality of the thorax Bilateral ptosis Intracranial hemorrhage Poor suck Hypokinesia Hyperammonemia Leukopenia Oculomotor apraxia Purpura Osteolysis Hyperbilirubinemia Knee flexion contracture Cardiac arrest Bone pain Progressive microcephaly Hydrops fetalis Petechiae Exertional dyspnea Progressive neurologic deterioration Slow saccadic eye movements Eclabion Abnormal pattern of respiration Histiocytosis Generalized osteosclerosis Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypoxemia Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Trismus Bulbar palsy Bulbar signs Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Anorexia Pulmonary arterial hypertension Irregular vertebral endplates Unilateral cleft lip Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Abnormality of the menstrual cycle Gingival cleft Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Enlarged vertebral pedicles Hypoplasia of eyelid Epistaxis Pallor Decreased fetal movement Cyanosis Brain atrophy Syncope Abnormal bleeding Generalized myoclonic seizures Pulmonary hypoplasia Hepatic failure Nausea Ophthalmoplegia Lethargy Irritability Spasticity Feeding difficulties in infancy Developmental regression Jaundice Dyspnea Myoclonus Dementia Delayed skeletal maturation Arrhythmia Encephalopathy Thrombocytopenia Dystonia Hypertonia Cardiac conduction abnormality


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