Intrauterine growth retardation, and Choanal atresia

Diseases related with Intrauterine growth retardation and Choanal atresia

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


Top matches:

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Medium match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Medium match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

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Other less relevant matches:

Medium match DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Medium match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Medium match RESTRICTIVE DERMOPATHY


Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.

RESTRICTIVE DERMOPATHY Is also known as fetal hypokinesia sequence due to restrictive dermopathy|hyperkeratosis-contracture syndrome|lethal restrictive dermopathy|tight skin contracture syndrome, lethal|tight skin contracture syndrome

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RESTRICTIVE DERMOPATHY

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Medium match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Choanal atresia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hearing impairment Low-set ears Intellectual disability Abnormal facial shape Posteriorly rotated ears Hypertelorism Ventricular septal defect Respiratory insufficiency Malar flattening Patent ductus arteriosus Premature birth Camptodactyly of finger Short nose Depressed nasal bridge Atrial septal defect Pulmonary hypoplasia Osteopenia Recurrent respiratory infections Depressed nasal ridge Neoplasm Respiratory failure Narrow mouth Prominent nasal bridge Retrognathia Arthrogryposis multiplex congenita Bowing of the long bones

Rare Symptoms - Less than 30% cases


Failure to thrive Immunodeficiency Attention deficit hyperactivity disorder Natal tooth Toe syndactyly Hamartoma Median cleft lip Wide anterior fontanel Hepatic fibrosis Renal cyst Cerebral atrophy Hyperlordosis Abnormality of the kidney Thin upper lip vermilion Anal atresia Small for gestational age Scoliosis Recurrent urinary tract infections Anteverted nares Severe short stature Seizures Cleft lip Short philtrum Cleft upper lip Renal agenesis Hypothyroidism Specific learning disability Tetralogy of Fallot Submucous cleft hard palate Ambiguous genitalia Polyhydramnios High, narrow palate Highly arched eyebrow Pyloric stenosis Large fontanelles Blepharophimosis High palate Reticulocytopenia Increased mean corpuscular volume Depressivity Macrocytic anemia Pectus excavatum Atresia of the external auditory canal Conductive hearing impairment Sensorineural hearing impairment Proptosis Downslanted palpebral fissures Hypospadias Hernia Midface retrusion Hydronephrosis Respiratory distress Anemia Sloping forehead Flexion contracture Agenesis of corpus callosum Short neck Pneumonia Recurrent infections Long philtrum Brachydactyly Epicanthus Interphalangeal joint contracture of finger Micromelia Combined immunodeficiency Deep philtrum Recurrent bronchitis Abnormality of chromosome stability Abnormal eyelid morphology Freckling Long nose Recurrent pneumonia Non-midline cleft lip Acute leukemia Cachexia Medulloblastoma Premature ovarian insufficiency Elevated alkaline phosphatase Hypophosphatemia Abnormality of neuronal migration Hearing abnormality Autoimmune hemolytic anemia Abnormality of the genitourinary system Acute lymphoblastic leukemia Anal stenosis Neuroblastoma B-cell lymphoma Recurrent sinopulmonary infections Abnormality of the musculature Neurodegeneration Low anterior hairline Bilateral choanal atresia Diarrhea Skeletal muscle atrophy Muscle weakness Ataxia Hypoplastic nasal bridge Craniofacial disproportion Alveolar ridge overgrowth Metaphyseal sclerosis Delayed cranial suture closure Thoracic hypoplasia Upslanted palpebral fissure Mandibular aplasia Brachyturricephaly Mixed hearing impairment Long hallux Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Protruding tongue Obstructive sleep apnea Osteopetrosis Glioma Hyperactivity Lymphopenia Amenorrhea Abnormality of the hair Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Abnormality of the face Primary amenorrhea Cutaneous photosensitivity Convex nasal ridge Hydroureter Otitis media Prominent nose Lymphoma Choanal stenosis Hemolytic anemia Leukemia Mental deterioration Intellectual disability, moderate Abnormality of the nervous system Macrotia Thrombocytopenia Bifid uvula Rhabdomyosarcoma Absent testis Clinodactyly of the 5th finger Inguinal hernia Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Cerebral cortical hemiatrophy Deeply set eye Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Pes planus Facial asymmetry Abnormality of the tongue Aortic aneurysm Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Truncus arteriosus Ulnar deviation of finger Bowel incontinence Obsessive-compulsive behavior Language impairment Aortic regurgitation Joint hyperflexibility Sandal gap Oculomotor apraxia Coxa valga Pointed chin Underdeveloped nasal alae Short distal phalanx of finger Short palm Long face Arachnodactyly Smooth philtrum Porencephalic cyst Rectovaginal fistula Abnormal hair quantity Feeding difficulties Oral cleft Talipes Abnormality of eye movement Finger syndactyly Skeletal dysplasia Cerebral cortical atrophy Polydactyly Clinodactyly Abnormality of cardiovascular system morphology Talipes equinovarus Progressive vitiligo Postaxial polydactyly Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Wide nose Plagiocephaly Short tibia Genu varum Foot polydactyly Primary adrenal insufficiency Occipital encephalocele Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Hypoplastic toenails Preaxial hand polydactyly Hand polydactyly Laryngomalacia Decreased testicular size Renal hypoplasia/aplasia Abnormality of the outer ear Joint dislocation Short ribs Renal dysplasia Encephalocele Split hand Oligohydramnios Postaxial hand polydactyly Limb undergrowth Sleep apnea Small placenta Narrow palate Triphalangeal thumb Uterine neoplasm Small hypothenar eminence Vitamin D deficiency Fetal distress Secundum atrial septal defect Esophagitis Recurrent lower respiratory tract infections Sprengel anomaly Horseshoe kidney Intellectual disability, mild Short thumb Recurrent otitis media Vesicoureteral reflux Neutropenia Osteoporosis Splenic cyst Pancreatic hypoplasia Pancreatic cysts Cystic renal dysplasia Strabismus Microphthalmia Buphthalmos Tented upper lip vermilion Nasal obstruction Panhypopituitarism Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Narrow nasal bridge Anophthalmia Precocious puberty Anosmia Coloboma EMG: myopathic abnormalities Hemangioma Holoprosencephaly Hypoplasia of penis Hypotelorism Growth hormone deficiency Ectodermal dysplasia Asthma Iris coloboma Sagittal craniosynostosis Esophageal varix Abnormality of the nasopharynx Cortical gyral simplification Congenital diaphragmatic hernia Microtia Jaundice Abnormal neuron morphology Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Profound global developmental delay Neuronal loss in central nervous system Broad neck Delayed myelination Brain atrophy Gliosis Abnormal cerebellum morphology Severe global developmental delay Cerebellar atrophy Ventriculomegaly Spasticity Cataract Ectopic kidney Cleft soft palate Thoracolumbar scoliosis Sepsis Hiatus hernia Enlarged kidney Congenital hypothyroidism Congenital glaucoma Portal hypertension Polycystic kidney dysplasia Cholestasis Bilateral sensorineural hearing impairment Hepatitis Cirrhosis Mandibulofacial dysostosis Abnormality of the liver Craniosynostosis Umbilical hernia Glaucoma Diabetes mellitus Splenomegaly Abnormality of the skeletal system Hepatomegaly Hypertension Single median maxillary incisor Cyclopia Increased bone mineral density Temporomandibular joint ankylosis Prominent superficial blood vessels Overtubulated long bones Abnormal cellular phenotype Epidermal hyperkeratosis Fixed facial expression Gastrointestinal atresia Short umbilical cord Large placenta Thin clavicles Premature delivery because of cervical insufficiency or membrane fragility Aplasia/Hypoplasia of the clavicles Decreased calvarial ossification Premature rupture of membranes Congenital pseudoarthrosis of the clavicle Aplasia/Hypoplasia involving the nose Congenital adrenal hypoplasia Stiff skin Microcolon Widely patent fontanelles and sutures Structural foot deformity Aplasia/Hypoplastia of the eccrine sweat glands Generalized hyperkeratosis Apnea Gingival overgrowth Hypoplasia of dental enamel Cerebral calcification Microdontia Macroglossia Downturned corners of mouth Bulbous nose Wide mouth Protruding ear Mandibular prognathia Hydropic placenta Dyspnea Brachycephaly Prominent forehead Abnormality of the dentition Hydrocephalus Dysphagia Macrocephaly Visual impairment Increased anterioposterior diameter of thorax Thoracic kyphoscoliosis Short nail Semilobar holoprosencephaly Sparse hair Scaling skin Sparse eyebrow Dermal atrophy Sparse eyelashes Short palpebral fissure Decreased fetal movement Abnormality of the skin Webbed neck Abnormality of the pinna Congenital contracture Telecanthus Kyphoscoliosis Hyperkeratosis Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Ectropion Rocker bottom foot Sparse or absent eyelashes Adrenal hypoplasia Narrow nasal ridge Dermal translucency Ascending tubular aorta aneurysm Skin erosion Ureteral duplication Entropion Small face Decreased skull ossification Trismus Absent eyelashes Multiple joint contractures Abnormality of the vasculature Severe intrauterine growth retardation Ankylosis Parakeratosis Aplasia cutis congenita Transposition of the great arteries Thin ribs Aplasia/Hypoplasia of the eyebrow Dextrocardia Branchial fistula



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypotelorism, related diseases and genetic alterations

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