Brachydactyly, and Hypertrichosis

Diseases related with Brachydactyly and Hypertrichosis

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


Top matches:

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY 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 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 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Low match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypertrichosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Synophrys Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Anteverted nares Microcephaly Sensorineural hearing impairment Highly arched eyebrow High palate Clinodactyly Bilateral sensorineural hearing impairment Delayed speech and language development Thick eyebrow Low-set ears Generalized hypotonia Ptosis Cleft palate Macroglossia

Rare Symptoms - Less than 30% cases


Long philtrum Constipation Generalized hirsutism Poor speech Obesity Coarse facial features Epidermal acanthosis Protruding ear Hirsutism Thick vermilion border Micrognathia Attention deficit hyperactivity disorder Thin upper lip vermilion Absent speech Wide nasal bridge Epicanthus Hyperkeratosis Abnormality of cardiovascular system morphology Ataxia Abnormality of digit Scoliosis Prominent eyelashes Syndactyly Diabetes mellitus Abnormality of the hand Hypertelorism High forehead Abnormality of the dentition Small nail Radioulnar synostosis Feeding difficulties Joint hypermobility Deep philtrum Shortening of all distal phalanges of the fingers Tarsal synostosis Aplasia/Hypoplasia of the distal phalanges of the hand Absent fifth toenail Prominent interphalangeal joints Carpal synostosis Short metatarsal Blue sclerae Microdontia Short metacarpal Hypodontia Abnormal corpus callosum morphology Motor delay Low anterior hairline Sparse hair Visual impairment Recurrent infections Delayed skeletal maturation Agenesis of corpus callosum Abnormality of the pinna Wide mouth Talon cusp Long eyelashes Hitchhiker thumb Wide nose Diastema Short hallux Thick lower lip vermilion Sparse scalp hair Depressed nasal bridge Cortical gyral simplification Absent fifth fingernail Upslanted palpebral fissure Neuronal loss in central nervous system Apraxia Short palpebral fissure Dental crowding Relative macrocephaly Broad face Broad philtrum Wide nasal base Short nose Clinodactyly of the 5th finger Hyperactivity Inability to walk Gastroesophageal reflux Pectus carinatum Smooth philtrum Intestinal malrotation Hemivertebrae Finger clinodactyly Cutis marmorata Short femoral neck Slender finger Submucous cleft hard palate Exostoses Delayed eruption of teeth Talipes Failure to thrive Macrocephaly Dysphagia Behavioral abnormality Joint laxity Decreased antibody level in blood Pachygyria Atonic seizures IgA deficiency Protruding tongue IgG deficiency Nystagmus Spasticity Talipes equinovarus Abnormality of the cerebral white matter Cerebellar atrophy Cerebral atrophy Hyporeflexia Babinski sign Cerebellar hypoplasia Prominent forehead Cerebral cortical atrophy Kyphoscoliosis Hepatosplenomegaly Camptodactyly Autistic behavior Optic atrophy Type II diabetes mellitus Growth delay Short neck Agenesis of permanent teeth Aplasia cutis congenita Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Hypoplasia of teeth Selective tooth agenesis Anhidrotic ectodermal dysplasia Absent toenail Hidrotic ectodermal dysplasia Bilateral triphalangeal thumbs Short philtrum Congenital sensorineural hearing impairment Renal agenesis Amenorrhea Primary amenorrhea Cubitus valgus Acne Unilateral renal agenesis Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Shield chest Aplasia of the uterus Anonychia Triphalangeal thumb Frontal balding Moderate hearing impairment Anemia Prominent nasal bridge Infertility Narrow palpebral fissure Azoospermia Progressive sensorineural hearing impairment Male infertility Anemia of inadequate production Congenital hypoplastic anemia Abnormal spermatogenesis Reduced sperm motility Midface retrusion Reduced number of teeth Pes planus Deeply set eye Nail dystrophy Dolichocephaly Toe syndactyly Short distal phalanx of finger Ectodermal dysplasia Nail dysplasia Hypotelorism Gingival overgrowth Oligodontia Abnormal vagina morphology Increased serum testosterone level Generalized hypertrichosis Insulin resistance Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Intellectual disability, mild Mandibular prognathia Macrotia Carious teeth Delayed puberty Muscle cramps Narrow forehead Subcutaneous nodule Accelerated skeletal maturation Hypergranulosis Acanthosis nigricans Polycystic ovaries Hyperinsulinemia Increased number of teeth Generalized hyperpigmentation Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Prolactin excess Macroorchidism Menstrual irregularities Generalized hyperkeratosis Abnormality of the testis Facial hirsutism Dry skin Aplasia of the vagina Aplasia/Hypoplasia of the fallopian tube Cataract Alopecia Hyperhidrosis Glaucoma Weight loss Erythema Skin rash Corneal opacity Pruritus Tapered finger Irregular hyperpigmentation 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 Scaling skin Hypermelanotic macule Macule Vertebral clefting



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