Brachydactyly, and Tapered finger

Diseases related with Brachydactyly and Tapered finger

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


Top matches:

Medium 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

Medium match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Medium match OPSISMODYSPLASIA


Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

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Other less relevant matches:

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Medium match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Medium match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Top 5 symptoms//phenotypes associated to Brachydactyly and Tapered finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Delayed speech and language development Long philtrum Clinodactyly Hearing impairment Epicanthus Pectus excavatum Frontal bossing Macrocephaly Short nose Abnormal facial shape Downslanted palpebral fissures Depressed nasal bridge Mandibular prognathia Microcephaly Micrognathia Short distal phalanx of finger Smooth philtrum Absent speech Wide nasal bridge Aggressive behavior High palate Feeding difficulties Motor delay Protruding ear Cryptorchidism High, narrow palate Clinodactyly of the 5th finger Midface retrusion High forehead Upslanted palpebral fissure Brachycephaly Anteverted nares Short foot

Rare Symptoms - Less than 30% cases


Thick vermilion border Growth delay Synophrys Poor speech Intrauterine growth retardation Macrotia Broad forehead Small hand Myopia Talipes equinovarus Hypermetropia Hyperreflexia Abnormality of epiphysis morphology Large fontanelles Blue sclerae Decreased testicular size Behavioral abnormality Short palm Attention deficit hyperactivity disorder Narrow chest Recurrent infections Wide mouth Hyperactivity Skeletal dysplasia Polyhydramnios Gait ataxia Dental crowding Recurrent respiratory infections Abnormal cardiac septum morphology Hernia Camptodactyly Sparse scalp hair Ptosis Cataract Lower limb hypertonia Scoliosis Cleft palate Osteoporosis Finger clinodactyly Delayed eruption of teeth Hypertrichosis Wormian bones Prominent forehead Cerebellar hypoplasia Hypospadias Hypoplasia of the corpus callosum Strabismus Constipation Narrow mouth Single transverse palmar crease Abnormality of the hand Posteriorly rotated ears Gastroesophageal reflux Abnormality of the dentition Genu valgum Carious teeth Short face Hypoplasia of the zygomatic bone Cerebral white matter hypoplasia Open bite Abnormality of the thumb Dimple chin Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Hearing abnormality Rib segmentation abnormalities Tethered cord Sprengel anomaly Hypoplastic inferior ilia Narrow nasal tip Sloping forehead Dystrophic fingernails Increased number of teeth Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Sleep apnea Decreased skull ossification Spina bifida occulta Coxa vara Abnormality of dental enamel Hemivertebrae Recurrent fractures Glossoptosis Short clavicles Dystrophic toenail Hypoplastic scapulae Down-sloping shoulders Sinusitis Abnormality of the ribs Chronic otitis media Shoulder muscle hypoplasia Decreased body weight Cervical segmentation defect Failure to thrive Anxiety Conductive hearing impairment Coarse facial features Retrognathia Kyphoscoliosis Atrial septal defect Central hypothyroidism Sparse hair Mild microcephaly Spondyloepiphyseal dysplasia Cutaneous syndactyly Microretrognathia Progressive microcephaly High myopia Febrile seizures Low-set, posteriorly rotated ears Short philtrum Dolichocephaly Short middle phalanx of finger Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead High anterior hairline Arachnoid cyst Infantile spasms Deep philtrum Broad nasal tip Plagiocephaly Narrow palpebral fissure Stereotypy Thick lower lip vermilion Small nail Dandy-Walker malformation Hip dysplasia Toe syndactyly Neonatal hypotonia Neck muscle hypoplasia Camptodactyly of finger Delayed CNS myelination Interphalangeal joint contracture of finger Hypoplasia of the maxilla Falls Paraplegia Spastic paraplegia Prominent nasal bridge Intellectual disability, moderate Large hands Deeply set eye Autism Micropenis Babinski sign Intellectual disability, severe Cognitive impairment Spasticity Intellectual disability, progressive Lower limb hyperreflexia Hypothyroidism Low frustration tolerance Rod-cone dystrophy Inguinal hernia Syndactyly Anemia Ataxia Talipes calcaneovarus Small forehead Alopecia areata Progressive spastic paraplegia Diastema Furrowed tongue Shuffling gait Distal lower limb amyotrophy Facial hypotonia Restlessness Multiple cafe-au-lait spots Chordee Obsessive-compulsive behavior Central hypotonia Shallow orbits Intellectual disability, mild Malar flattening Cerebral atrophy Microtia Nail dystrophy Congenital cataract Thin vermilion border Flat face Tented upper lip vermilion Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Broad philtrum Sensorineural hearing impairment Broad eyebrow Craniofacial asymmetry Muscular hypotonia Hepatomegaly Short neck Respiratory insufficiency Edema Splenomegaly Delayed skeletal maturation Severe short stature Respiratory failure Respiratory tract infection Joint stiffness Platyspondyly Low-set ears Patchy palmoplantar keratoderma Short metacarpal Epidermal acanthosis Abnormality of cardiovascular system morphology Alopecia Hyperhidrosis Diabetes mellitus Glaucoma Hyperkeratosis Weight loss Erythema Skin rash Corneal opacity Pruritus Dry skin Palmoplantar keratoderma Abnormal blistering of the skin Cutaneous photosensitivity Diffuse palmoplantar hyperkeratosis Thickened skin Abnormality of the hair Abnormality of the nail Generalized hirsutism Neoplasm of the skin Palmoplantar hyperkeratosis Scaling skin Hypermelanotic macule Macule Irregular hyperpigmentation Abnormality of the testis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Micromelia Limb undergrowth Syringomyelia Downturned corners of mouth Short phalanx of finger Low anterior hairline 2-3 toe syndactyly Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Aplasia of the 1st metacarpal Schizophrenia Bipolar affective disorder Hypertonia Joint hypermobility Highly arched eyebrow Hypodontia Delayed myelination Apraxia Exotropia Short thumb Abnormal vertebral morphology Clonus Oculomotor apraxia Widely spaced teeth Bilateral ptosis Patent foramen ovale Hypoplastic toenails Supernumerary nipple Narrow nasal bridge Spinal canal stenosis Syncope Thick eyebrow Abnormality of the metaphysis Flat acetabular roof Broad thumb Rhizomelia Wide anterior fontanel Recurrent pneumonia Disproportionate short-limb short stature Short long bone Relative macrocephaly Prominent supraorbital ridges Metaphyseal irregularity Flat occiput Hypophosphatemia Protuberant abdomen Bell-shaped thorax Delayed epiphyseal ossification Metaphyseal cupping Facial asymmetry Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Posterior rib cupping Dysphagia Abnormality of the skeletal system Kyphosis Pes planus Testicular torsion



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