Brachydactyly, and Ichthyosis

Diseases related with Brachydactyly and Ichthyosis

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


Top matches:

Low match MAL DE MELEDA


Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

MAL DE MELEDA Is also known as keratosis palmoplantaris transgrediens of siemens|meleda disease|transgrediens palmoplantar keratoderma of siemens

Related symptoms:

  • Brachydactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAL DE MELEDA

Low match ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Low match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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Other less relevant matches:

Low match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match CHIME SYNDROME


CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match BATHING SUIT ICHTHYOSIS


Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.

BATHING SUIT ICHTHYOSIS Is also known as bsi

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about BATHING SUIT ICHTHYOSIS

Low match ACRAL SELF-HEALING COLLODION BABY


Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.

ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb

Related symptoms:

  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ACRAL SELF-HEALING COLLODION BABY

Top 5 symptoms//phenotypes associated to Brachydactyly and Ichthyosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Ventricular septal defect Scoliosis Seizures Hypergonadotropic hypogonadism Ptosis Hypertelorism Overfolded helix Cryptorchidism Low-set, posteriorly rotated ears High palate Wide intermamillary distance Sparse scalp hair Posteriorly rotated ears Hypogonadism Hydrocephalus Ventriculomegaly Sparse hair Thick vermilion border Thick lower lip vermilion Epicanthus Alopecia Muscular hypotonia Hyperkeratosis Delayed skeletal maturation Hypotrichosis Growth delay

Rare Symptoms - Less than 30% cases


Abnormal facial shape Anteverted nares Atrial septal defect Low-set ears Cataract Cleft palate Growth hormone deficiency Peripheral pulmonary artery stenosis Micrognathia Short nose Patent ductus arteriosus Hypothyroidism Upper eyelid edema Gingival overgrowth Hyperpigmentation of the skin Hyperhidrosis Hyperactivity Feeding difficulties Abnormal heart morphology Frontal bossing Wide nasal bridge Conductive hearing impairment Camptodactyly Depressed nasal bridge Abnormality of the kidney Cerebral cortical atrophy Strabismus Epiphyseal stippling Dandy-Walker malformation Webbed neck Osteolysis Abnormal cardiac septum morphology Prominent forehead Bronchiectasis Pectus carinatum Downslanted palpebral fissures Fragile nails Retrognathia Pes planus Joint hypermobility Single transverse palmar crease Microcephaly Overgrowth Hernia Flexion contracture Macrocephaly Macrotia Palmoplantar hyperkeratosis Narrow forehead Intellectual disability, mild Erythema Umbilical hernia Aplasia/Hypoplasia of the eyebrow Abnormality of the elbow Autoimmunity Hiatus hernia Hypomagnesemia Arnold-Chiari type I malformation Abnormality of refraction Broad neck Abnormally large globe Enlarged cisterna magna Abnormality of the testis Atopic dermatitis Redundant neck skin Natal tooth Decreased serum testosterone level Seborrheic keratosis Abnormality of the nasal bridge Fever Hepatomegaly Hyperreflexia Anemia Retroperitoneal fibrosis Sensorineural hearing impairment Broad fingertip Slow-growing hair Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Freckling Thickened helices Abnormality of the pulmonary artery Patent foramen ovale Neurodevelopmental delay Eczema Mitral regurgitation Low posterior hairline Ventricular hypertrophy Systemic lupus erythematosus Coarctation of aorta Abnormality of the vertebral column Cyanosis Cafe-au-lait spot Vitamin K deficiency High, narrow palate Thin vermilion border Short nasal septum Carious teeth Pulmonic stenosis Dolichocephaly Thin skin Anosmia Short distal phalanx of finger Coarse hair Abnormality of coagulation Right bundle branch block Hypoplastic toenails Failure to thrive in infancy Nasal speech Deep philtrum Relative macrocephaly Optic nerve hypoplasia Hoarse voice Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Short phalanx of finger Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Edema Snoring Splenomegaly Plagiocephaly Histiocytosis Reticulocytopenia Psoriasiform dermatitis Chronic rhinitis Lipodystrophy Sleep apnea Azoospermia Type I diabetes mellitus Nasal obstruction Elbow flexion contracture Abnormality of cardiovascular system physiology Aspiration Pancreatic hypoplasia Gynecomastia Telangiectasia Primary amenorrhea Skin nodule Stridor Hypertriglyceridemia Episodic fever Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polycythemia Hyperglycemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hypertrichosis Broad finger Bilateral camptodactyly Myelofibrosis Apnea Hepatosplenomegaly Dyspnea Proptosis Micropenis Diabetes mellitus Severe short stature Facial telangiectasia Retinopathy Panniculitis Episcleritis Recurrent pharyngitis Stiff skin Cervical lymphadenopathy Pneumonia Clinodactyly Generalized lymphadenopathy Malabsorption Attention deficit hyperactivity disorder Hyperplasia of the maxilla Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Decreased testicular size Full cheeks Delayed puberty Recurrent fractures Polyneuropathy Flat face Corneal arcus Cleft upper lip Lymphadenopathy Abnormality of the foot Blue sclerae Brittle hair Craniosynostosis Abnormal lip morphology Syndactyly Congestive heart failure Hypertonia Hypoplasia of the corpus callosum Abnormality of the skeletal system Infra-orbital fold Irregular dentition Agenesis of corpus callosum Urethral stenosis Eclabion Generalized osteoporosis Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time Midface retrusion Polydactyly Premature ovarian insufficiency Bulbous nose Sacral dimple Microretrognathia Narrow palpebral fissure Aortic valve stenosis Esotropia Hypopigmentation of the skin Wide nose Long face Polyhydramnios Smooth philtrum Toe syndactyly Prominent nasal bridge Muscular hypotonia of the trunk Aggressive behavior Deeply set eye Skeletal dysplasia High pitched voice Aortic aneurysm 2-3 toe syndactyly Congenital symmetrical palmoplantar keratosis Intellectual disability, progressive Split hand Falls EEG abnormality Photophobia Intellectual disability, severe Hyperkeratosis with erythema Alopecia universalis Ainhum Diffuse palmoplantar keratoderma Concave nail Thick nail Subungual hyperkeratosis Abnormality of the mouth Palmoplantar keratoderma Sparse body hair Abnormal nasal morphology Increased susceptibility to fractures Hirsutism Redundant skin Hyperextensible skin Cutis laxa Sparse and thin eyebrow Decreased body weight High myopia Everted lower lip vermilion Bruising susceptibility Abnormality of skeletal morphology Joint laxity Coarse facial features Osteoporosis Dilatation Long philtrum Cognitive impairment Short corpus callosum Self-injurious behavior Overlapping toe Postnatal growth retardation Transposition of the great arteries Retinal coloboma Long foot Acute leukemia Acute lymphoblastic leukemia Hypoplastic nipples Increased number of teeth Decreased fertility Ureteropelvic junction obstruction Large for gestational age Keratitis Abnormality of dental morphology Large hands Erythroderma Growth abnormality Recurrent skin infections Aplasia/Hypoplasia of the nipples Aplastic clavicle Widely spaced teeth Cardiomyopathy Hypertrophic cardiomyopathy Hypoglycemia Gastroesophageal reflux High forehead Pectus excavatum Abnormality of cardiovascular system morphology Vomiting Short neck Duplicated collecting system Delayed speech and language development Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Violent behavior Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the hand Clubbing of toes Abnormality of the outer ear Abnormal dermatoglyphics Ectopic kidney Olivopontocerebellar hypoplasia Hydronephrosis Autism Brachycephaly Upslanted palpebral fissure Clinodactyly of the 5th finger Cerebral atrophy Abnormality of the dentition Hypoplastic aortic arch Wide mouth Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Long fingers Broad hallux Abnormality of the nervous system Coloboma Skin ulcer Microdontia Joint contracture of the hand Abnormality of epiphysis morphology Tall stature Broad-based gait Depressed nasal ridge Fine hair Tetralogy of Fallot Ectodermal dysplasia Short philtrum Bifid uvula Hypodontia Short foot Short palm Hip dislocation Corneal opacity Leukemia Maternal autoimmune disease



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