Low-set ears, and Skeletal dysplasia

Diseases related with Low-set ears and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Low-set ears and Skeletal dysplasia that can help you solving undiagnosed cases.


Top matches:

Medium match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


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

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Other less relevant matches:

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


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

Medium match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Medium match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Medium match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Medium match BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME


Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

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

Medium match FGFR2-RELATED BENT BONE DYSPLASIA


FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

Top 5 symptoms//phenotypes associated to Low-set ears and Skeletal dysplasia

Symptoms // Phenotype % cases
Malar flattening Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Low-set ears and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Brachydactyly Craniosynostosis Global developmental delay Short neck Abnormal facial shape Hypertelorism Micrognathia Rhizomelia Short nose Platyspondyly

Rare Symptoms - Less than 30% cases


Metaphyseal widening Short long bone Epiphyseal dysplasia Hypoplastic ischia Bell-shaped thorax Metaphyseal cupping Cleft palate Intellectual disability Metaphyseal dysplasia Intrauterine growth retardation Abnormality of the skeletal system Severe platyspondyly Metaphyseal chondrodysplasia Decreased skull ossification Postnatal growth retardation Micromelia Generalized hypotonia Feeding difficulties Prominent forehead Respiratory tract infection Delayed skeletal maturation Depressed nasal bridge Low-set, posteriorly rotated ears Hydrocephalus Finger syndactyly Clinodactyly Hypertension Squared iliac bones Dysplastic sacrum Hyperechogenic pancreas Laryngeal cleft Prolonged prothrombin time Subglottic stenosis Normocytic anemia Delayed epiphyseal ossification Iliac crest serration Delayed speech and language development Downslanted palpebral fissures Prolonged partial thromboplastin time Ventricular septal defect Mild global developmental delay Spondylometaphyseal dysplasia Deep philtrum Anteverted nares Cardiomegaly Microtia Small for gestational age Narrow chest Rod-cone dystrophy Wide nose Dilatation Round face Limb undergrowth Pulmonary arterial hypertension Hypokinesia Large fontanelles Wide anterior fontanel Short ribs Wormian bones Tachypnea Congestive heart failure Respiratory insufficiency Muscular hypotonia of the trunk Blindness Cognitive impairment Macrotia Short clavicles Adrenal hypoplasia Congenital adrenal hypoplasia Osteopenia Hepatosplenomegaly Hirsutism Gingival overgrowth Short chin Abnormality of the outer ear Clitoral hypertrophy Bowing of the legs Natal tooth Megalocornea Adrenal insufficiency Coronal craniosynostosis Abnormally large globe Congenital stationary night blindness Abnormality of the lower limb Lethal skeletal dysplasia Extramedullary hematopoiesis Hypoplastic pubic bone Decreased calvarial ossification Overfolding of the superior helices Metopic depression Steep acetabular roof Incomplete ossification of pubis Primary adrenal insufficiency Bilateral cryptorchidism Intellectual disability, moderate Sensorineural hearing impairment Nyctalopia Retinal degeneration Short distal phalanx of finger Renal cyst Short metacarpal Underdeveloped nasal alae Small nail Horseshoe kidney Congenital blindness Hearing impairment Scoliosis Muscular hypotonia Hypercalcemia Cryptorchidism Hypospadias Hypogonadism Micropenis Hydronephrosis Muscular dystrophy Growth hormone deficiency Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Hypercalciuria Severe failure to thrive Anemia Exocrine pancreatic insufficiency Mesomelia Severe short stature Posteriorly rotated ears Mandibular prognathia Joint laxity Hyperlordosis Lumbar hyperlordosis Broad thumb Hoarse voice Abnormality of the nail Relative macrocephaly Short finger Multiple epiphyseal dysplasia Proportionate short stature Barrel-shaped chest Spondyloepimetaphyseal dysplasia Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Absent nasal cartilage Intellectual disability, mild Microphthalmia Enlarged joints Molar tooth sign on MRI Hyperkeratosis Motor delay Proptosis High forehead Limitation of joint mobility Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Cloverleaf skull Craniofacial dysostosis Elbow ankylosis Obesity Joint dislocation Pectus excavatum Inguinal hernia Agenesis of corpus callosum Polyhydramnios Pectus carinatum Hip dislocation Genu valgum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Lymphedema Cerebellar hypoplasia Wide mouth Steatorrhea High palate Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Microcephaly Failure to thrive Myopia Fibroma Diarrhea Thrombocytopenia Constipation Neutropenia High myopia Severe muscular hypotonia Genu varum Laryngomalacia Metaphyseal irregularity Mild short stature Neurodevelopmental delay Toe clinodactyly Anal stenosis Short philtrum Hypoplasia of the calcaneus Short palm Short foot Depressed nasal ridge Thin ribs Hypoplastic iliac wing 11 pairs of ribs Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Ptosis Multiple joint contractures Flexion contracture Epicanthus Syndactyly Osteoporosis Telecanthus Camptodactyly Coloboma Camptodactyly of finger Abnormality of skin pigmentation Iris coloboma Short toe Abnormality of the periosteum



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