Brachydactyly, and Abnormality of the pinna

Diseases related with Brachydactyly and Abnormality of the pinna

In the following list you will find some of the most common rare diseases related to Brachydactyly and Abnormality of the pinna that can help you solving undiagnosed cases.


Top matches:

Low match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Low match TIBIAL APLASIA-ECTRODACTYLY SYNDROME


Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

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Other less relevant matches:

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Low match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Top 5 symptoms//phenotypes associated to Brachydactyly and Abnormality of the pinna

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Protruding ear Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Abnormality of the pinna. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Macrotia Cataract Cleft palate Microcephaly Hydrocephalus

Rare Symptoms - Less than 30% cases


Ataxia Shield chest Finger syndactyly Cryptorchidism Iris coloboma Depressed nasal tip Low-set ears Nystagmus Macrocephaly Wide nasal bridge Midface retrusion Oral cleft Cleft lip Global developmental delay Agenesis of corpus callosum Hirsutism High palate Epicanthus Holoprosencephaly Omphalocele Abnormality of cardiovascular system morphology Generalized hirsutism Single median maxillary incisor Postaxial hand polydactyly Epidermal acanthosis Hypertrichosis Postaxial polydactyly Hypotelorism Polydactyly Hyperkeratosis Diabetes mellitus Type II diabetes mellitus Abnormality of the dentition Hypertelorism Anteverted nares Frontal bossing Hypergranulosis Generalized hyperkeratosis Short nose Thin upper lip vermilion Upslanted palpebral fissure Diffuse palmoplantar hyperkeratosis Microphthalmia Patchy palmoplantar keratoderma Broad forehead Abnormality of the testis Diffuse palmoplantar keratoderma Menstrual irregularities Generalized hypertrichosis Delayed puberty Narrow forehead Subcutaneous nodule Macroglossia Insulin resistance Accelerated skeletal maturation Acanthosis nigricans Polycystic ovaries Muscle cramps Carious teeth Macroorchidism Hyperinsulinemia Increased number of teeth Generalized hyperpigmentation Mandibular prognathia Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Intellectual disability, mild Prolactin excess Smooth philtrum Bilateral cleft lip and palate Highly arched eyebrow Absent speech Low-set, posteriorly rotated ears Hypoplasia of penis Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Spasticity Anemia Hyperreflexia Hepatomegaly Hypertonia Splenomegaly Jaundice Renal insufficiency Hepatosplenomegaly Spastic paraplegia Paraplegia Inability to walk Hemolytic anemia Delayed myelination Hyperbilirubinemia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Brachycephaly Sensorineural hearing impairment Prominent nose Alobar holoprosencephaly Dental malocclusion Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Macule Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Hypoplasia of the premaxilla Strabismus Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Muscle weakness Clinodactyly Stroke Tachycardia Syncope Atrial fibrillation Ventricular tachycardia Ventricular extrasystoles Paroxysmal atrial fibrillation Thromboembolic stroke Irregular hyperpigmentation Erythema Hypermelanotic macule Patellar aplasia Split hand Overfolded helix Cupped ear Preaxial hand polydactyly Femoral bowing Ectrodactyly Fibular hypoplasia Split foot Short hallux Short femur Abnormality of femur morphology Abnormality of fibula morphology Abnormality of the foot Aplasia/Hypoplasia of the ulna Absent tibia Popliteal pterygium Aplasia/Hypoplasia of the tibia Hand monodactyly Rudimentary to absent tibiae Absent forearm Aplasia of the 3rd finger Short neck Short philtrum Synophrys Limitation of joint mobility Camptodactyly Renal agenesis Hypoplastic toenails Clinodactyly of the 5th finger Severe short stature Nail dystrophy Anal atresia Short palm Small hand Hypodontia Nail dysplasia Limb undergrowth Small nail Abnormality of the fingernails Mild short stature Talipes equinovarus Facial cleft Postaxial foot polydactyly Abnormality of the antihelix Abnormal toenail morphology Thoracic dysplasia Overlapping fingers Conical tooth Advanced eruption of teeth Toenail dysplasia Abnormal oral frenulum morphology Prominent antihelix Thick eyebrow Amenorrhea Scaling skin Skin rash Scrotal hypoplasia Adrenal hypoplasia Barrel-shaped chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Hearing impairment Alopecia Hyperhidrosis Glaucoma Weight loss Corneal opacity Sandal gap Pruritus Dry skin Tapered finger Palmoplantar keratoderma Abnormal blistering of the skin Cutaneous photosensitivity Thickened skin Abnormality of the hair Abnormality of the nail Neoplasm of the skin Palmoplantar hyperkeratosis Aplasia/Hypoplasia of the corpus callosum Ambiguous genitalia Primary amenorrhea Aplasia of the vagina Cubitus valgus Acne Unilateral renal agenesis Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Aplasia of the uterus Abnormal vagina morphology Frontal balding Increased serum testosterone level Facial hirsutism Aplasia/Hypoplasia of the fallopian tube Wide intermamillary distance Micrognathia Abnormal facial shape Abnormality of the skeletal system Ventriculomegaly Malar flattening Hypospadias Micropenis Deeply set eye Micromelia Cleft upper lip Hypoglycorrhachia



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