Low-set ears, and Camptodactyly

Diseases related with Low-set ears and Camptodactyly

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

Top 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

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME Is also known as morse-rawnsley-sargent syndrome

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Short neck


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES 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

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

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

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Camptodactyly of finger Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Flexion contracture Micrognathia Short neck Scoliosis Arachnodactyly Global developmental delay

Rare Symptoms - Less than 30% cases

Proptosis Short nose Interphalangeal joint contracture of finger Coloboma Abnormal intestine morphology Respiratory failure Severe global developmental delay Narrow chest Seizures Abnormality of cardiovascular system morphology Joint stiffness Posteriorly rotated ears Talipes Adducted thumb Joint contracture of the hand Decreased fetal movement Growth delay Depressed nasal bridge Intrauterine growth retardation Abnormal oral frenulum morphology Camptodactyly of toe Clinodactyly Microcephaly Generalized hypotonia Pterygium Elbow flexion contracture Arthrogryposis multiplex congenita Abnormal facial shape Craniosynostosis Failure to thrive Multiple joint contractures Ptosis Frontal bossing Diarrhea Syndactyly Hydroureter Brachydactyly Epicanthus Vesicoureteral reflux Round face Aganglionic megacolon Aplasia/Hypoplasia of the abdominal wall musculature Anonychia Hyperparathyroidism Abdominal situs inversus Abnormality of the diencephalon Cardiomyopathy Megacystis Abnormality of the skeletal system Midface retrusion Malar flattening Abnormal foot bone ossification Iris coloboma Anal stenosis Fibroma Toe clinodactyly Kyphosis Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal hand bone ossification Abdominal distention Localized osteoporosis Umbilical hernia Abnormality of skin pigmentation Prominent nasal bridge Telecanthus Skeletal dysplasia Osteoporosis Short toe Broad forehead Congestive heart failure Abnormality of the voice Elevated serum creatine phosphokinase Respiratory tract infection Muscular hypotonia Hyperreflexia Wide nasal bridge Ventriculomegaly Respiratory insufficiency Hypoplasia of the corpus callosum Encephalopathy Recurrent respiratory infections Apnea Erythema Pugilistic facies Skin rash Micromelia Thin vermilion border Brain atrophy Bradycardia Hyperammonemia CNS hypomyelination Lower limb hyperreflexia Periventricular cysts Subependymal cysts Dislocation of toes Marked muscular hypertrophy Pes cavus Mitral regurgitation Retrognathia Difficulty walking Hypertrophic cardiomyopathy Hip dislocation Synophrys Wide nose Everted lower lip vermilion Prominent nose Ventricular hypertrophy Congenital hip dislocation Broad nail Prominent supraorbital ridges Hydranencephaly Skeletal muscle hypertrophy Hallux valgus Broad palm Eclabion Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Progressive pes cavus Enlarged thorax Short stature Abnormality of the pleura Brachycephaly Type I diabetes mellitus Short chin Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Strabismus Long philtrum Narrow mouth Abnormal lung morphology Recurrent fractures Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Chronic diarrhea Hepatitis Narrow pelvis bone Distal arthrogryposis Pectus excavatum Knee flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Nasal speech Vertebral fusion Hip contracture Spondylolisthesis Asthma Multiple pterygia Hepatomegaly Macrocephaly Splenomegaly Diabetes mellitus Hypothyroidism Autoimmunity Dolichocephaly Malabsorption Abnormal renal morphology Elbow ankylosis Fetal akinesia sequence Cerebral cortical atrophy Small for gestational age Toe syndactyly Long fingers Central apnea Small face Hand clenching Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Deeply set eye Autistic behavior Blepharophimosis Limitation of joint mobility Sloping forehead Holoprosencephaly Abnormal dermatoglyphics Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia/aplasia Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the lungs Short philtrum Neonatal hypotonia Hypertension Bilateral talipes equinovarus Talipes equinovarus Myopathy Polyhydramnios Kyphoscoliosis Thin upper lip vermilion Pulmonary hypoplasia Triangular face Congenital contracture Ankylosis Microphthalmia Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Short umbilical cord Intellectual disability Cataract Behavioral abnormality Necrolytic migratory erythema


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