Low-set ears, and Growth hormone deficiency

Diseases related with Low-set ears and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Low-set ears and Growth hormone deficiency that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

High match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25


Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

High match NOONAN SYNDROME 6; NS6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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Other less relevant matches:

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

High match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

High match TMEM165-CDG


TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match WIEDEMANN-STEINER SYNDROME


Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

High match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Growth hormone deficiency

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Low-set ears and Growth hormone deficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Downslanted palpebral fissures Hypertelorism Short nose Long philtrum Seizures Microcephaly Wide nasal bridge Cryptorchidism Macrocephaly Feeding difficulties High forehead Failure to thrive Strabismus Posteriorly rotated ears Intrauterine growth retardation Webbed neck Bilateral ptosis Muscular hypotonia Hypogonadism Postnatal growth retardation Gastroesophageal reflux Joint laxity Dilatation Hyperactivity Small hand Sensorineural hearing impairment Delayed skeletal maturation Abnormal heart morphology Hearing impairment Intellectual disability, mild Thin upper lip vermilion Long eyelashes

Rare Symptoms - Less than 30% cases


Anteverted nares Anxiety Asymmetry of the thorax High palate Rhizomelia Frontal bossing Highly arched eyebrow Muscular hypotonia of the trunk Micropenis Stereotypy Hypocalcemia Sparse scalp hair Epiphyseal dysplasia Wide nose Attention deficit hyperactivity disorder Relative macrocephaly Metaphyseal dysplasia Short philtrum Narrow nasal bridge Clinodactyly Midface retrusion Cataract Atrial septal defect Hypoplasia of the corpus callosum Deeply set eye Broad neck Hirsutism Pulmonic stenosis Short palpebral fissure Epicanthus Astigmatism Thin vermilion border Constipation Hypertrichosis Cardiomyopathy Delayed speech and language development Severe short stature Sacral dimple Broad forehead Abnormality of the nares Hypertrophic cardiomyopathy Short foot Hypoplasia of penis Facial asymmetry Intestinal obstruction Abnormality of dental enamel Recurrent bacterial infections Synophrys Telecanthus Bifid uvula Dolichocephaly Short palm Intellectual disability, moderate Convex nasal ridge Severe global developmental delay Blepharophimosis Neurological speech impairment Delayed myelination Aggressive behavior External ear malformation Spinal canal stenosis Flat face Decreased circulating cortisol level Hyperphosphatemia Corneal opacity Tetany Hypoparathyroidism Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Low-set, posteriorly rotated ears Congenital hypoparathyroidism Severe intrauterine growth retardation Macrotia Patchy osteosclerosis Dysphagia Behavioral abnormality Recurrent respiratory infections Pectus excavatum Clinodactyly of the 5th finger Brachycephaly Narrow mouth Small for gestational age Hypocalcemic seizures Congenital, generalized hypertrichosis Thick eyebrow Thick lower lip vermilion Hernia Obesity Inguinal hernia Autism Neonatal hypotonia Autistic behavior Coloboma Microtia Hypermetropia Smooth philtrum Joint hypermobility Iris coloboma Broad thumb Abnormality of cardiovascular system morphology Amblyopia Exotropia Cerebral visual impairment Plagiocephaly Widely spaced teeth Language impairment Obsessive-compulsive behavior Long palpebral fissure Inverted nipples Eyelid coloboma Generalized neonatal hypotonia Juvenile cataract Absent speech Recurrent infections Tapered finger Abnormality of the elbow Round face Broad-based gait Short toe Generalized hirsutism Finger clinodactyly Narrow palpebral fissure Accelerated skeletal maturation Infantile muscular hypotonia Delayed gross motor development Abnormality of the hand Short middle phalanx of finger Narrow nose Depressed nasal tip Respiratory distress Short attention span Broad philtrum Abnormal corpus callosum morphology Psychomotor deterioration Anteverted ears Low frustration tolerance Abnormality of the dentition Small forehead Aplasia/Hypoplasia of the ribs Hyperextensibility at elbow Dilatation of renal calices Elbow hypertrichosis Visual impairment Microphthalmia Megalencephaly Myopathy Nephrocalcinosis Juvenile myelomonocytic leukemia Scoliosis Cleft palate Hypospadias Hydronephrosis Respiratory tract infection Craniosynostosis Muscular dystrophy Micromelia Bilateral sensorineural hearing impairment Abnormality of the genital system Short long bone Curly hair Hypercalciuria Hypercalcemia Bilateral cryptorchidism Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Hypertension Congestive heart failure Retrognathia Long eyebrows Cafe-au-lait spot Dilated cardiomyopathy Hypoplastic fifth toenail Short distal phalanx of finger Thick vermilion border Everted lower lip vermilion Full cheeks Underdeveloped nasal alae Small nail Open mouth Short chin Long nose Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the columella Leukemia Cerebellar atrophy Cerebral atrophy Pectus carinatum Increased body weight Preeclampsia Intraventricular hemorrhage Motor delay Myopia Edema Hyperkeratosis Sparse hair Stroke Decreased testicular size Ventriculomegaly Depressed nasal ridge Abnormality of the skeletal system Malar flattening Thrombocytopenia Elevated serum creatine phosphokinase Osteoporosis Kyphoscoliosis Skeletal dysplasia Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the cerebral white matter Waddling gait Postnatal microcephaly Hepatomegaly Hoarse voice Shock Protruding tongue Amelogenesis imperfecta Premature skin wrinkling Beaking of vertebral bodies Toenail dysplasia Anterior pituitary hypoplasia Diaphyseal dysplasia Unexplained fevers Micrognathia Fever Muscle weakness Short phalanx of finger Ventricular septal defect Hypergonadotropic hypogonadism Azoospermia Cerebral hemorrhage Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormal hand morphology Moyamoya phenomenon Cognitive impairment Short neck Loose anagen hair Hydrocephalus Polyhydramnios Abnormal cardiac septum morphology Ichthyosis Eczema Hyperpigmentation of the skin Nasal speech Redundant skin Arnold-Chiari type I malformation Deep palmar crease Slow-growing hair Small posterior fossa Microtia, first degree



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Small for gestational age, related diseases and genetic alterations Macrocephaly and Blue sclerae, related diseases and genetic alterations High palate and Hypermetropia, related diseases and genetic alterations

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