Brachydactyly, and Nail dystrophy

Diseases related with Brachydactyly and Nail dystrophy

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


Top matches:

Medium 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

Medium 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

Medium match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

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Other less relevant matches:

Medium match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

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 ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Nail dystrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Intellectual disability Global developmental delay Small nail Nail dysplasia Abnormal facial shape Hypertelorism Abnormality of the dentition Mandibular prognathia Low-set ears Posteriorly rotated ears Bilateral sensorineural hearing impairment Anonychia Short distal phalanx of finger Tapered finger Genu valgum High forehead Clinodactyly of the 5th finger Depressed nasal bridge Wide mouth Epicanthus High palate Mild short stature Cataract Generalized hypotonia Scoliosis Coarse facial features

Rare Symptoms - Less than 30% cases


Thick eyebrow Cerebral atrophy Thick lower lip vermilion Intellectual disability, severe Malar flattening Long philtrum Ptosis Short nose Sparse scalp hair Intellectual disability, progressive Syndactyly Clinodactyly Camptodactyly Downslanted palpebral fissures Hemivertebrae Upslanted palpebral fissure Macroglossia Splenomegaly Brachycephaly Muscular hypotonia Spina bifida occulta Delayed eruption of teeth Broad forehead Recurrent respiratory infections Macrocephaly Cleft palate Micrognathia Dystrophic fingernails Cavernous hemangioma Dystrophic toenail Microcephaly Myopia Thin upper lip vermilion Optic atrophy Anteverted nares Umbilical hernia Hyperactivity Abnormal heart morphology Bulbous nose Hernia Congestive heart failure Hypertension Tented upper lip vermilion Congenital cataract Microtia Protruding tongue Thick vermilion border Hypertrichosis Toenail dysplasia Hypotelorism Vomiting Abnormality of the fingernails Short neck Joint hypermobility Conical tooth Pes planus Hypodontia Dolichocephaly Severe sensorineural hearing impairment Aplasia cutis congenita Triphalangeal thumb Oligodontia Gingival overgrowth Ectodermal dysplasia Alopecia Toe syndactyly Kyphoscoliosis Severe short stature Polydactyly Anal atresia Protruding ear Increased number of teeth Respiratory tract infection Aortic root aneurysm Everted lower lip vermilion Pericardial effusion Large for gestational age Metaphyseal widening Abnormality of the nervous system Open bite Growth abnormality Neonatal hypotonia Downturned corners of mouth Abnormality of pelvic girdle bone morphology Chronic otitis media Hyporeflexia Polyneuropathy Prominent nose Abnormality of the skin Renal agenesis Abnormality of the metacarpal bones Dandy-Walker malformation High myopia Hypsarrhythmia Sleep apnea Short phalanx of finger Coxa vara Abnormal dermatoglyphics Infantile spasms Broad ribs Blindness Hearing abnormality Shoulder muscle hypoplasia Hypoplasia of the zygomatic bone Down-sloping shoulders Hypoplastic scapulae Decreased skull ossification Glossoptosis Everted upper lip vermilion Abnormality of the thumb Aortic arch aneurysm Dimple chin Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Generalized hypertrichosis Hypoplastic inferior ilia Short face Respiratory distress Cervical segmentation defect Neck muscle hypoplasia Prominent eyelashes Short distal phalanx of toe Sprengel anomaly Short clavicles Hyperextensibility of the finger joints Gingival fibromatosis Feeding difficulties Delayed speech and language development Peripheral neuropathy Long penis Colpocephaly Thin bony cortex Biliary atresia Paroxysmal bursts of laughter Hypoplasia of the iris Increased body weight Abnormality of the skeletal system Encephalitis Scrotal hypoplasia Infantile muscular hypotonia Drooling Widely spaced teeth Narrow face Hepatomegaly Exotropia Abnormality of the genital system Cardiomyopathy Open mouth Dilatation Renal hypoplasia Narrow forehead Radial deviation of finger Strabismus Vesicoureteral reflux U-Shaped upper lip vermilion Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Bilateral cryptorchidism Lower limb hypertonia Asplenia Facial hypotonia Triangular nasal tip Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Decreased testicular size Patent ductus arteriosus Cystic renal dysplasia Growth delay Macrotia Hepatosplenomegaly Synophrys Hirsutism Overgrowth Intellectual disability, profound Nephrolithiasis Cryptorchidism Thickened skin Generalized hirsutism Accelerated skeletal maturation Hemangioma Profound sensorineural hearing impairment Overjet Prominent nasal tip Polyhydramnios Spasticity Paraplegia Hypogonadism Abnormality of the foot Spastic paraplegia Abnormality of the kidney Telecanthus Gastroesophageal reflux Micropenis Cerebral cortical atrophy Pneumonia Hyperreflexia Constipation Delayed skeletal maturation Hypospadias Obesity Hypertonia Dyspnea Talipes equinovarus Abnormality of dental enamel Hyperammonemia Wormian bones Thoracolumbar scoliosis Prominent nasal bridge Hyperhidrosis Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Thoracic kyphosis Hypotrichosis Scleroderma Malnutrition Rheumatoid arthritis Cachexia Abnormal intestine morphology Chronic diarrhea Bowing of the long bones Finger syndactyly Dry skin Nausea Abnormality of the face Abnormality of dental morphology Melanocytic nevus Dermal atrophy Conjunctivitis Finger clinodactyly Abnormality of the nail Skin ulcer Thin skin Oral cleft Split hand Inflammatory abnormality of the skin Cutaneous photosensitivity Fine hair Eczema Microdontia Wide intermamillary distance Postural instability Malabsorption Hypoplastic nipples Abnormality of the antihelix Prominent antihelix Abnormal oral frenulum morphology Single median maxillary incisor Advanced eruption of teeth Overlapping fingers Thoracic dysplasia Abnormal toenail morphology Postaxial foot polydactyly Reduced number of teeth Facial cleft Hypoplastic toenails Postaxial hand polydactyly Limb undergrowth Small hand Postaxial polydactyly Short palm Deeply set eye Abnormality of the hand Nausea and vomiting Flexion contracture Platyspondyly Arthritis Hypothyroidism Abdominal pain Kyphosis Diarrhea Edema Bilateral triphalangeal thumbs Congenital sensorineural hearing impairment Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Selective tooth agenesis Hypoplasia of teeth High-frequency hearing impairment Abnormality of digit Agenesis of permanent teeth Freckling Ectrodactyly Sinusitis Cutis marmorata Prominent superficial veins Calcinosis Right ventricular hypertrophy Progressive proximal muscle weakness Oligodactyly Spastic diplegia Abnormality of the coagulation cascade Portal hypertension Right ventricular failure Patent foramen ovale Ischemic stroke Ventricular hypertrophy Pulmonary arterial hypertension Coarctation of aorta Hip dysplasia Ascites Esophageal varix Aplasia cutis congenita of scalp Pulmonic stenosis Carious teeth Abnormality of epiphysis morphology Large fontanelles Abnormality of the ribs Sloping forehead Recurrent fractures High, narrow palate Narrow chest Skeletal dysplasia Hypersplenism Osteoporosis Frontal bossing Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hepatic failure Abnormality of the cerebral white matter Alopecia of scalp Lacrimal duct stenosis Narrow mouth Intellectual disability, mild Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Nail pits Fingernail dysplasia Thin vermilion border Nasolacrimal duct obstruction Breast hypoplasia Absent nipple Sparse axillary hair Generalized hypopigmentation Fair hair Split foot Smooth philtrum Flat face Severe global developmental delay Ventricular septal defect Stroke Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Proximal muscle weakness Inguinal hernia Encephalopathy Myopathy Motor delay Radioulnar synostosis Muscle weakness Craniofacial asymmetry Broad eyebrow Broad philtrum Shallow orbits Arnold-Chiari type I malformation Pericarditis Delayed cranial suture closure Mesiodens



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