Brachydactyly, and Hypopigmentation of the skin

Diseases related with Brachydactyly and Hypopigmentation of the skin

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


Top matches:

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low 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

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Other less relevant matches:

Low match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low match DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Low match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

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 MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Hypopigmented skin patches Midface retrusion Cleft palate Wide nasal bridge Strabismus Anteverted nares Syndactyly Proptosis Hydrocephalus Prominent nasal bridge Clinodactyly Ptosis Dry skin Abnormality of the skeletal system Sensorineural hearing impairment Failure to thrive Hearing impairment Hypoplasia of the corpus callosum Craniosynostosis Frontal bossing Generalized hypotonia Growth delay Abnormal cardiac septum morphology Abnormality of cardiovascular system morphology Deeply set eye

Rare Symptoms - Less than 30% cases


Bicoronal synostosis Polydactyly Blue irides Carpal synostosis Premature graying of hair Oxycephaly Congenital sensorineural hearing impairment Cataract Blepharophimosis Hypertonia Hyperactivity Vomiting Aggressive behavior Ectopic kidney Spasticity Tremor Polyhydramnios Generalized hypopigmentation Short stature Cognitive impairment Plagiocephaly Broad hallux Hyperreflexia Anxiety Increased intracranial pressure Acanthosis nigricans Abnormal form of the vertebral bodies Epidermal acanthosis Dental malocclusion Melanocytic nevus Nystagmus Ventricular septal defect Brachycephaly Posteriorly rotated ears Malar flattening Micrognathia High palate Short neck Respiratory insufficiency Downslanted palpebral fissures Optic atrophy Fair hair Thick vermilion border Osteopenia Short nose Toe syndactyly High forehead Talipes equinovarus Wide intermamillary distance Anal atresia Spotty hypopigmentation Eczema Telecanthus Anemia Motor delay Abnormality of the face Abnormal facial shape Camptodactyly Abnormal posturing Hypertension Overlapping fingers Mood changes Folate deficiency Body odor Hyperphenylalaninemia Prenatal maternal abnormality Extrapulmonary sequestrum Hypoplastic colon Self-mutilation Iron deficiency anemia Macrocephaly Short foot Hypoplastic left heart Low anterior hairline Scleroderma Bradycardia Bilateral sensorineural hearing impairment Febrile seizures High, narrow palate Dysphagia Short palm Autistic behavior Apnea Prominent forehead Aplasia/Hypoplasia of the macula Poor coordination Hypoplasia of the small intestine Lymphangioma Cerebral cortical hemiatrophy Postaxial hand polydactyly Hydrops fetalis Hepatic fibrosis Thickened skin Renal dysplasia Omphalocele Depressed nasal ridge Renal hypoplasia Limb undergrowth Multicystic kidney dysplasia Specific learning disability Ascites Postaxial polydactyly Pulmonary hypoplasia Micromelia Abnormality of the pinna Rigidity Muscle stiffness Hemivertebrae Pancreatic fibrosis Rib fusion Abnormality of the cerebellar vermis Cone-shaped epiphysis Microphakia Subcortical cerebral atrophy Increased level of hippuric acid in urine Phenylpyruvic acidemia Cystic renal dysplasia Polysplenia Redundant skin Reduced phenylalanine hydroxylase activity Broad neck Enlarged kidney Protuberant abdomen Generalized hyperpigmentation Cystic hygroma Macular dystrophy Trigonocephaly Obsessive-compulsive behavior Malnutrition Low-set, posteriorly rotated ears Ichthyosis Smooth philtrum Olivopontocerebellar hypoplasia Intrauterine growth retardation Behavioral abnormality Headache Depressivity Bulbous nose Muscular hypotonia of the trunk Abnormal heart morphology Skeletal dysplasia Cerebral cortical atrophy Autism Agenesis of corpus callosum Congestive heart failure Long face Wide nose Ventriculomegaly Sacral dimple Epiphyseal stippling Otosclerosis Long fingers Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Long neck Single transverse palmar crease Hypoplastic aortic arch Microretrognathia Narrow palpebral fissure Aortic valve stenosis Narrow forehead Dandy-Walker malformation Esotropia Irritability Cryptorchidism Radial deviation of finger Delayed myelination Esophageal atresia Pruritus Abnormality of the cerebral white matter Hypopigmentation of hair Tarsal synostosis Nausea Asthma Cerebral calcification Cone-shaped epiphyses of the phalanges of the hand Hypermelanotic macule Coarctation of aorta Psychosis Spontaneous abortion Narrow nose Short middle phalanx of finger Tracheoesophageal fistula Coronal craniosynostosis Upper airway obstruction Postnatal growth retardation Capitate-hamate fusion Abnormality of the liver Scoliosis Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Skin rash Synostosis of carpals/tarsals Aqueductal stenosis Hemimegalencephaly Craniofacial asymmetry Attention deficit hyperactivity disorder Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Anterior plagiocephaly Respiratory failure Preauricular skin tag Upslanted palpebral fissure Split foot Lacrimal duct stenosis Fingernail dysplasia Toenail dysplasia Nasolacrimal duct obstruction Breast hypoplasia Absent nipple Sparse axillary hair Alopecia of scalp Lacrimal duct atresia Ectrodactyly Hypoplastic nipples Freckling Abnormality of dental morphology Dermal atrophy Oligodontia Conjunctivitis Nail pits Conical incisor Abnormality of the nail Arthrogryposis multiplex congenita Anorexia Aganglionic megacolon Underdeveloped nasal alae Abdominal distention Abnormality of skin pigmentation Paraplegia Synophrys Spastic paraplegia Premature loss of permanent teeth Camptodactyly of finger Cleft lip Mandibular prognathia Intellectual disability, severe Atrial septal defect Flexion contracture Adermatoglyphia Finger clinodactyly Skin ulcer Scapular winging Sandal gap Talipes Small for gestational age Sparse hair Severe short stature Recurrent infections Depressed nasal bridge Hyperplasia of the maxilla Inability to walk Sparse and thin eyebrow Flat face Unsteady gait Joint laxity Neonatal hypotonia Thin upper lip vermilion Narrow mouth Absent speech Short distal phalanx of finger Profound global developmental delay Thin skin Ectodermal dysplasia Split hand Inflammatory abnormality of the skin Sparse scalp hair Cutaneous photosensitivity Fine hair Microdontia Nail dysplasia Hypodontia Anisopoikilocytosis Oral cleft Hypotrichosis Nail dystrophy Finger syndactyly Hyperhidrosis Alopecia Clinodactyly of the 5th finger Abnormality of the dentition Joint contracture of the hand Albinism Recurrent respiratory infections Triphalangeal thumb External ear malformation Aniridia Irregular hyperpigmentation Absent radius Aplasia/Hypoplasia of the thumb Preaxial hand polydactyly Chorioretinal coloboma Hypoplasia of the radius Blepharospasm Spina bifida occulta Amblyopia Short palpebral fissure Low posterior hairline Webbed neck Microcornea Everted lower lip vermilion Stenosis of the external auditory canal Abnormal pupil morphology Facial asymmetry Patchy hypopigmentation of hair Cerebellar hypoplasia Edema Myopia Hepatomegaly Epicanthus Muscular hypotonia Ataxia Palpebral fissure narrowing on adduction Oculomotor nerve palsy Central heterochromia Impaired ocular abduction Impaired ocular adduction Narrow internal auditory canal Hypoplastic iris stroma Abnormal vertebral segmentation and fusion Anorectal anomaly Optic disc hypoplasia Iris coloboma Abnormality of eye movement Cutaneous finger syndactyly Partial albinism Hypoplasia of the maxilla Conductive hearing impairment Renal insufficiency Visual impairment Feeding difficulties Poliosis Dacryocystitis Narrow naris Migraine Bronchomalacia White forelock Atelectasis White hair Heterochromia iridis Vitiligo Sprengel anomaly Nevus Short metacarpal Skeletal muscle atrophy Choanal stenosis Short uvula Membranous nephropathy Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Cloverleaf skull Turricephaly Convex nasal ridge Proportionate short stature Aplasia/Hypoplasia of the cerebellum Glomerulonephritis Laryngomalacia Abnormality of the metacarpal bones Arnold-Chiari malformation Abnormal palate morphology Choanal atresia Maternal hyperphenylalaninemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Broad forehead, related diseases and genetic alterations Hyperreflexia and Nyctalopia, related diseases and genetic alterations

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