Growth delay, and Posteriorly rotated ears

Diseases related with Growth delay and Posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Growth delay and Posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Other less relevant matches:

Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Posteriorly rotated ears

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Low-set, posteriorly rotated ears Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Posteriorly rotated ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Downslanted palpebral fissures Depressed nasal bridge Short neck Macrocephaly Microcephaly Midface retrusion Long eyelashes Anteverted nares Hypertelorism

Rare Symptoms - Less than 30% cases

Cleft palate Nasal speech Abnormal facial shape Malar flattening Pulmonic stenosis Lactic acidosis Sparse eyebrow Webbed neck Sparse hair Cardiomyopathy Proportionate short stature Hypertrophic cardiomyopathy Muscular hypotonia Everted lower lip vermilion Intrauterine growth retardation Frontal bossing High forehead Seizures Highly arched eyebrow Narrow forehead Abnormal cerebellum morphology Short palpebral fissure Hypertrichosis Open mouth Hirsutism Short chin Cerebellar vermis hypoplasia Long nose Underdeveloped supraorbital ridges Abnormality of the nares Hypoplastic fifth toenail Small nail Thick lower lip vermilion Limb hypertonia Partial agenesis of the corpus callosum Palpebral edema Congenital microcephaly Nonprogressive cerebellar ataxia Brachydactyly Upper eyelid edema Intellectual disability, mild Short nose Aplasia/Hypoplasia of the corpus callosum Growth hormone deficiency Clinodactyly Short philtrum Short distal phalanx of finger Thick vermilion border Low anterior hairline Full cheeks Underdeveloped nasal alae Abnormality of the columella Relative macrocephaly Severe short stature Curly hair Coarse facial features Broad forehead Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Absent eyebrow Arthropathy Hyperkeratosis Neuropathic arthropathy Failure to thrive Hypogonadism Hypoglycemia Intellectual disability, moderate Decreased fetal movement Nephrolithiasis Hypocalcemia Cystinuria Proptosis Atrial septal defect Mandibular prognathia Mesomelia Joint laxity Hyperlordosis Platyspondyly Lumbar hyperlordosis Broad thumb Rhizomelia Hoarse voice Abnormality of the nail Metaphyseal widening Short finger Myopia Barrel-shaped chest Spondyloepimetaphyseal dysplasia Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage High palate Peripheral neuropathy Thick eyebrow Macrocytic anemia Poor speech Chronic metabolic acidosis Delayed myelination Increased serum lactate Spastic tetraplegia Leukoencephalopathy Redundant neck skin Generalized edema Abnormality of the renal tubule Abnormality of the amniotic fluid Cryptorchidism Ascites Dysphagia Specific learning disability Abnormality of the face Abnormality of the thorax Prolonged bleeding time Multiple cafe-au-lait spots Abnormality of the helix Abnormality of the lymphatic system Tetraplegia Metabolic acidosis Scoliosis Absent/hypoplastic paranasal sinuses Abnormality of the kidney Small for gestational age Broad nasal tip Wide anterior fontanel Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Premature posterior fontanelle closure Dilated cardiomyopathy Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Generalized hypotonia Hypoplasia of the corpus callosum Edema Acidosis Retrognathia Muscular hypotonia of the trunk Abdominal wall muscle weakness Flexion contracture Protruding ear Broad neck Hernia Microtia Bifid uvula Congenital diaphragmatic hernia Sparse and thin eyebrow Mixed hearing impairment Submucous cleft hard palate Severe sensorineural hearing impairment Granulocytopenia Epicanthus Mandibulofacial dysostosis Ataxia Strabismus Intellectual disability, severe Hypertonia Absent speech Cerebellar hypoplasia Agenesis of corpus callosum Respiratory distress Feeding difficulties Syndactyly Abnormal palate morphology Pectus excavatum Camptodactyly Craniosynostosis Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Cutaneous syndactyly Pterygium Anemia Vertebral fusion Hip contracture Distal arthrogryposis Spondylolisthesis Multiple pterygia Hearing impairment Micrognathia Sensorineural hearing impairment Mitochondrial respiratory chain defects


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